diff --git "a/test/annotations.tsv" "b/test/annotations.tsv" new file mode 100644--- /dev/null +++ "b/test/annotations.tsv" @@ -0,0 +1,597 @@ +Variant Annotation ID Variant/Haplotypes Gene Drug(s) PMID Phenotype Category Significance Notes Sentence Alleles Specialty Population Metabolizer types isPlural Is/Is Not associated Direction of effect PD/PK terms Multiple drugs And/or Population types Population Phenotypes or diseases Multiple phenotypes or diseases And/or Comparison Allele(s) or Genotype(s) Comparison Metabolizer types +1449557385 rs3767344 RXRG irinotecan 29706892 Metabolism/PK no Allele G is not associated with metabolism of irinotecan in people with Colorectal Neoplasms as compared to allele C. G Is Not associated with metabolism of in people with Disease:Colorectal Neoplasms C +1449557376 rs12717991 VDR irinotecan 29706892 Metabolism/PK no Allele T is not associated with metabolism of irinotecan in people with Colorectal Neoplasms as compared to allele C. T Is Not associated with metabolism of in people with Disease:Colorectal Neoplasms C +1449557367 rs6031587 HNF4A irinotecan 29706892 Metabolism/PK no Allele T is not associated with metabolism of irinotecan in people with Colorectal Neoplasms as compared to allele C. T Is Not associated with metabolism of in people with Disease:Colorectal Neoplasms C +1449557344 rs11574077 VDR irinotecan 29706892 Metabolism/PK yes The pharmacokinetic analysis focused on markers that, even if not presenting a significant effect in the replication cohort (p > 0.05), presented a concordant effect on the toxicity risk in both cohorts (same size effect according to the same genetic model). The association of these polymorphisms with the pharmacokinetic parameters was investigated in a subset of 71 patients from the discovery cohort, and the most relevant results (p < 0.1; concordant genetic model) . Genotype TT is associated with increased metabolism of irinotecan in people with Colorectal Neoplasms as compared to genotype CT. TT Is Associated with increased metabolism of in people with Disease:Colorectal Neoplasms CT +1450376738 rs4680 COMT methylphenidate 18580877 Efficacy no No significant genotype by treatment interaction was observed (p=0.4), suggesting that COMT genotype does not modulate therapeutic response, at least at the dose of MPH tested (0.5¿mg/kg). Restricted Academic Situation Scale (RASS) was used. Allele G is not associated with response to methylphenidate in children with Attention Deficit Disorder with Hyperactivity as compared to allele A. G Pediatric Is Not associated with response to in children with Disease:Attention Deficit Disorder with Hyperactivity A +1444666816 rs2241766 ADIPOQ pioglitazone 25405601 Efficacy yes "Response was defined as ""any decrease greater than (or equal to) 15%"" of glycated hemoglobin (HbA1C%). When comparing the response rates between patients with the GT versus TT genotypes, the GT genotypes were associated with a greater frequency of response (52.94% versus 12.7% p=0.001) as well as a greater decrease in HbA1c% as compared to patients with the TT genotype (1.15 versus 0.52 p=0.001). Logistic regression analysis showed that rs2241766 GT genotype was associated with response to pioglitazone. *Please note: there were no individuals of genotype GG." Genotype GT is associated with increased response to pioglitazone in people with Diabetes Mellitus as compared to genotype TT. GT Is Associated with increased response to in people with Disease:Diabetes Mellitus TT +1444666909 rs2241767 ADIPOQ pioglitazone 25405601 Efficacy no "Response was defined as ""any decrease greater than (or equal to) 15%"" of glycated hemoglobin (HbA1C%)." Genotype AA are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotypes AG + GG. AA Are Not associated with response to in people with Disease:Diabetes Mellitus AG + GG +1444666920 rs3821799 ADIPOQ pioglitazone 25405601 Efficacy no "Response was defined as ""any decrease greater than (or equal to) 15%"" of glycated hemoglobin (HbA1C%). The TT genotype was associated with a greater decrease in waist circumference as compared to the TC and CC genotypes after pioglitazone therapy (p=0.033)." Genotypes CT + TT are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotype CC. CT + TT Are Not associated with response to in people with Disease:Diabetes Mellitus CC +1444666926 rs3774261 ADIPOQ pioglitazone 25405601 Efficacy no "Response was defined as ""any decrease greater than (or equal to) 15%"" of glycated hemoglobin (HbA1C%). The AA genotype was associated with a greater decrease in waist circumference as compared to the AG and GG genotypes after pioglitazone therapy (p=0.019) although the AG and GG genotypes were associated with a greater decrease in fasting insulin as compared to the AA genotype (p=0.03)." Genotypes AG + GG are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotype AA. AG + GG Are Not associated with response to in people with Disease:Diabetes Mellitus AA +1444666874 rs1501299 ADIPOQ pioglitazone 25405601 Efficacy no "Response was defined as ""any decrease greater than (or equal to) 15%"" of glycated hemoglobin (HbA1C%)." Genotypes GT + TT are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotype TT. GT + TT Are Not associated with response to in people with Disease:Diabetes Mellitus TT +1444666966 rs2082940 ADIPOQ pioglitazone 25405601 Efficacy no "Response was defined as ""any decrease greater than (or equal to) 15%"" of glycated hemoglobin (HbA1C%)." Genotype CC are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotypes CT + TT. CC Are Not associated with response to in people with Disease:Diabetes Mellitus CT + TT +1444666932 rs266729 ADIPOQ pioglitazone 25405601 Efficacy no "Response was defined as ""any decrease greater than (or equal to) 15%"" of glycated hemoglobin (HbA1C%)." Genotype CC are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotypes CG + GG. CC Are Not associated with response to in people with Disease:Diabetes Mellitus CG + GG +1444666944 rs16861194 ADIPOQ pioglitazone 25405601 Efficacy no "Response was defined as ""any decrease greater than (or equal to) 15%"" of glycated hemoglobin (HbA1C%)." Genotype AG are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotype AA. AG Are Not associated with response to in people with Disease:Diabetes Mellitus AA +1444666960 rs1063537 ADIPOQ pioglitazone 25405601 Efficacy no "Response was defined as ""any decrease greater than (or equal to) 15%"" of glycated hemoglobin (HbA1C%)." Genotype CC are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotypes CT + TT. CC Are Not associated with response to in people with Disease:Diabetes Mellitus CT + TT +1444667028 rs1063538 ADIPOQ pioglitazone 25405601 Efficacy no "Response was defined as ""any decrease greater than (or equal to) 15%"" of glycated hemoglobin (HbA1C%)." Genotypes CC + CT are not associated with response to pioglitazone in people with Diabetes Mellitus as compared to genotype TT. CC + CT Are Not associated with response to in people with Disease:Diabetes Mellitus TT +1452053606 SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele) SLC6A4 citalopram 23562852 Efficacy no The 5-HTTLPR was not associated with significant differences in response (HAMD) in patients receiving citalopram. SLC6A4 HTTLPR long form (L allele) is not associated with response to citalopram in people with Depressive Disorder, Major as compared to SLC6A4 HTTLPR short form (S allele). HTTLPR long form (L allele) Is Not associated with response to in people with Other:Major Depressive Disorder HTTLPR short form (S allele) +1183684336 CYP2D6*1, CYP2D6*3, CYP2D6*4, CYP2D6*5 CYP2D6 imipramine 7640151 Metabolism/PK not stated The medians of the hydroxylation ratios (i.e. 2-hydroxy-metabolite over parent compound) were higher in extensive metabolizers of sparteine (EMs) as compared with poor metabolizers (PMs). No statistic given, but none of the ratios separated the two phenotypes (EM vs PM) completely. CYP2D6 *3/*4 + *4/*4 + *5/*5 are associated with decreased metabolism of imipramine in healthy individuals as compared to CYP2D6 *1/*1 + *1/*3 + *1/*4. *3/*4 + *4/*4 + *5/*5 Are Associated with decreased metabolism of in healthy individuals *1/*1 + *1/*3 + *1/*4 +1007118673 CYP3A5*1, CYP3A5*3 CYP3A5 vincristine 21225912 Metabolism/PK yes CYP3A5 *1/*3 individuals produced significantly more of the M1 vincristine metabolite compared to *3/*3 individuals (1286 +/- 1068 pg/ml vs. 329 +/- 277 pg/ml).; The metabolic ratio of vincristine/M1 was also significantly higher in *3/*3 as compared to *1/*3. CYP3A5 *1/*3 is associated with increased metabolism of vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to CYP3A5 *3/*3. *1/*3 Pediatric Is Associated with increased metabolism of in children with Disease:Acute lymphoblastic leukemia *3/*3 +1183697523 rs1051266 SLC19A1 capecitabine, fluorouracil, irinotecan, leucovorin 24143213 Efficacy yes This SNP was presented as an A>G nucleotide change. Patients were split into two groups based on treatment. One group received irinotecan, fluorouracil, and leucovorin, and the other group received irinotecan and capecitabine. Patients with the GG genotype showed significantly greater rapid response rate as compared to patients carrying the A allele. In addition, when combined with rs2306283, patients homozygous for the G allele for this SNP and carrying the A allele at rs2306283 had significantly higher rapid response rates than patients with any other combination of genotypes. Genotype CC is associated with increased response to capecitabine, fluorouracil, irinotecan or leucovorin in people with Colorectal Neoplasms as compared to genotypes CT + TT. CC Is Associated with increased response to or in people with Disease:Colorectal Neoplasms CT + TT +1183697518 rs2306283 SLCO1B1 capecitabine, fluorouracil, irinotecan, leucovorin 24143213 Efficacy yes Patients were split into two groups based on treatment. One group received irinotecan, fluorouracil, and leucovorin, and the other group received irinotecan and capecitabine. Patients carrying the A allele showed significantly greater rapid response rate, progression free survival, and irinotecan-related time to treatment failure as compared to patients with the GG genotype. In addition, when combined with rs1051266, patients carrying the A allele for this SNP and homozygous for the G allele at rs1051266 had significantly higher rapid response rates than patients with any other combination of genotypes. Genotypes AA + AG are associated with increased response to capecitabine, fluorouracil, irinotecan or leucovorin in people with Colorectal Neoplasms as compared to genotype GG. AA + AG Are Associated with increased response to or in people with Disease:Colorectal Neoplasms GG +1183697527 rs4149056 SLCO1B1 capecitabine, fluorouracil, irinotecan, leucovorin 24143213 Efficacy no Patients were split into two groups based on treatment. One group received irinotecan, fluorouracil, and leucovorin, and the other group received irinotecan and capecitabine. No association was found between this SNP and rapid response rate, progression free survival, or irinotecan-related time to treatment failure. Genotypes CC + CT are not associated with increased response to capecitabine, fluorouracil, irinotecan or leucovorin in people with Colorectal Neoplasms as compared to genotype TT. CC + CT Are Not associated with increased response to or in people with Disease:Colorectal Neoplasms TT +1446748136 rs2032582 ABCB1 sunitinib 26244574 Efficacy yes The genotype was not associated with progression free survival, or overall survival. Clinical benefit is defined as either partial response or stable disease and lack of clinical benefit as progressive disease. This was more significant when calculated for the haplotype rs1045642 T, rs1128503 T, and rs2032582 T. Please note, alleles have been complemented to the + chromosomal strand. Genotype AA is associated with decreased response to sunitinib in people with Carcinoma, Renal Cell. AA Is Associated with decreased response to in people with Disease:Renal Cell Carcinoma +1446754341 rs1128503 ABCB1 sunitinib 26244574 Efficacy no The genotype was not associated with clinical benefit, progression free survival, or overall survival. However a haplotype containing this variant (haplotype rs1045642 T, rs1128503 T, and rs2032582 T) was significant. Clinical benefit was defined as either partial response or stable disease. Please note, alleles have been complemented to the + chromosomal strand. Genotype AA is not associated with response to sunitinib in people with Carcinoma, Renal Cell as compared to genotypes AG + GG. AA Is Not associated with response to in people with Disease:Renal Cell Carcinoma AG + GG +1446706623 rs1933437 FLT3 sunitinib 26244574 Efficacy no The genotype was not associated with progression free survival, or overall survival either. Clinical benefit was defined as either partial response or stable disease. Please note, alleles have been complemented to the + chromosomal strand. Genotype AA is not associated with response to sunitinib in people with Carcinoma, Renal Cell as compared to genotypes AG + GG. AA Is Not associated with response to in people with Disease:Renal Cell Carcinoma AG + GG +1446765670 rs1045642 ABCB1 sunitinib 26244574 Efficacy yes The genotype was associated with decreased clinical benefit but it was not associated with progression free survival, or overall survival, Clinical benefit was defined as either partial response or stable disease. This was more significant when calculated for the haplotype rs1045642 T, rs1128503 T, and rs2032582 T. Please note, alleles have been complemented to the + chromosomal strand. Genotype AA is associated with decreased response to sunitinib in people with Carcinoma, Renal Cell as compared to genotypes AG + GG. AA Is Associated with decreased response to in people with Disease:Renal Cell Carcinoma AG + GG +1446735619 rs2231142 ABCG2 sunitinib 26244574 Efficacy no The genotype was not associated with progression free survival, or overall survival, or clinical benefit. Clinical benefit was defined as either partial response or stable disease. Please note, alleles have been complemented to the + chromosomal strand. Genotype TT is not associated with response to sunitinib in people with Carcinoma, Renal Cell as compared to genotypes GG + GT. TT Is Not associated with response to in people with Disease:Renal Cell Carcinoma GG + GT +1446695874 rs2305948 KDR sunitinib 26244574 Efficacy no The genotype was not associated with clinical benefit, which was defined as either partial response or stable disease. The genotype was also not associated with progression free survival, or overall survival. Genotype CT is not associated with response to sunitinib in people with Carcinoma, Renal Cell as compared to genotype CC. CT Is Not associated with response to in people with Disease:Renal Cell Carcinoma CC +1184512419 rs7856096 FPGS warfarin 25079360 Dosage yes In the discovery cohort the uncorrected p-value was 1.82E-8. P-values were adjusted using Bonferroni correction, with a significance cutoff of 3.22E-7 based on the 155,186 SNPs tested in the discovery cohort. Allele G is associated with decreased dose of warfarin as compared to allele A. G Is Associated with decreased dose of A +1184512426 rs7856096 FPGS warfarin 25079360 Dosage yes In the combined cohort each minor allele of rs7856096 contributed to -5.81 mg/week change in predicted dose (p= 3.93E-5) using the IWPC algorithm. Allele G is associated with decreased dose of warfarin as compared to allele A. G Is Associated with decreased dose of A +1447814214 rs57064725 PSMA4 cotinine 26833182 Metabolism/PK yes The authors conducted a GWAS meta-analysis to identify genetic variants associated with cotinine in current daily smokers (Caucasian). The following study cohorts were analyzed: ALSPAC, CARDIA, FinnTwin, Framingham, GenMets, MESA, NESDA, NTR, TwinsUK, YFS. This SNP was detected as a residual association after accounting for rs10851907. Allele A is associated with increased concentrations of cotinine in people with Tobacco Use Disorder as compared to allele C. A Is Associated with increased concentrations of in people with Disease:Tobacco Use Disorder C +1447814223 rs16969968 CHRNA5 cotinine 26833182 Metabolism/PK yes The authors conducted a GWAS meta-analysis to identify genetic variants associated with cotinine in current daily smokers (Caucasian). The following study cohorts were analyzed: ALSPAC, CARDIA, FinnTwin, Framingham, GenMets, MESA, NESDA, NTR, TwinsUK, YFS. This SNP was re-analyzed because of previous evidence demonstrating association with smoking quantity. It was also significantly associated with cotinine levels in the meta-analysis. Allele A is associated with increased concentrations of cotinine in people with Tobacco Use Disorder as compared to allele G. A Is Associated with increased concentrations of in people with Disease:Tobacco Use Disorder G +1447814198 rs77107237 cotinine 26833182 Metabolism/PK yes The authors conducted a GWAS meta-analysis to identify genetic variants associated with cotinine in current daily smokers (Caucasian). The following study cohorts were analyzed: ALSPAC, CARDIA, FinnTwin, Framingham, GenMets, MESA, NESDA, NTR, TwinsUK, YFS. The SNP was associated with a ~39 ng/ml increase in plasma/serum cotinine and accounted for 0.87% variance in cotinine levels. Allele G is associated with increased concentrations of cotinine in people with Tobacco Use Disorder as compared to allele A. G Is Associated with increased concentrations of in people with Disease:Tobacco Use Disorder A +1447814206 rs10851907 CHRNB4 cotinine 26833182 Metabolism/PK yes The authors conducted a GWAS meta-analysis to identify genetic variants associated with cotinine in current daily smokers (Caucasian). The following study cohorts were analyzed: ALSPAC, CARDIA, FinnTwin, Framingham, GenMets, MESA, NESDA, NTR, TwinsUK, YFS. The SNP was associated with a ~34 ng/ml increase in plasma/serum cotinine and accounted for 1.75% variance in cotinine levels. Allele A is associated with increased concentrations of cotinine in people with Tobacco Use Disorder as compared to allele G. A Is Associated with increased concentrations of in people with Disease:Tobacco Use Disorder G +1447814235 rs588765 CHRNA5 cotinine 26833182 Metabolism/PK no The authors conducted a GWAS meta-analysis to identify genetic variants associated with cotinine in current daily smokers (Caucasian). The following study cohorts were analyzed: ALSPAC, CARDIA, FinnTwin, Framingham, GenMets, MESA, NESDA, NTR, TwinsUK, YFS. Allele C is not associated with concentrations of cotinine in people with Tobacco Use Disorder as compared to allele T. C Is Not associated with concentrations of in people with Disease:Tobacco Use Disorder T +1447814229 rs7170068 CHRNA3 cotinine 26833182 Metabolism/PK yes The authors conducted a GWAS meta-analysis to identify genetic variants associated with cotinine in current daily smokers (Caucasian). The following study cohorts were analyzed: ALSPAC, CARDIA, FinnTwin, Framingham, GenMets, MESA, NESDA, NTR, TwinsUK, YFS. This SNP was detected as a residual association after accounting for rs16969968. Allele A is associated with increased concentrations of cotinine in people with Tobacco Use Disorder as compared to allele G. A Is Associated with increased concentrations of in people with Disease:Tobacco Use Disorder G +1444932172 rs2076828 SLC22A3 metformin 25920679 Efficacy yes A healthy human cohort that was used to determine the effects of functional variants, including rs2076828, on metformin disposition and response. Carriers of the G allele had significantly smaller changes in their glucose AUC (mean ± S.D.; CC, -88 ± 40 mg/dl per hour; CG, -34 ± 51 mg/dl per hour; GG, -41 ± 72 mg/dl per hour) and significantly lower glucose AUC even before metformin dosing (mean ± S.D.; CC, 376 ± 62 mg/dl per hour; CG, 348 ± 55 mg/dl per hour; GG, 330 ± 41 mg/dl per hour; P < 0.05). Even after adjusting for the differences in glucose AUC before metformin dosing the variant remained significantly associated with metformin response (P < 0.05). Allele G is associated with decreased response to metformin in healthy individuals as compared to allele C. G Is Associated with decreased response to in healthy individuals C +1448112528 rs7937567 GALNT18 cisplatin 27150640 Efficacy yes This SNP was significantly associated with complete pathologic response in the discovery cohort, but not the replication cohort. Genotype GG is associated with increased response to cisplatin in people with Urinary Bladder Neoplasms as compared to genotypes AA + AG. GG Is Associated with increased response to in people with Disease:Urinary Bladder Neoplasms AA + AG +1448112545 rs10964552 MLLT3 cisplatin 27150640 Efficacy yes This SNP was significantly associated with stage T or CYP2B6 15582C>T. Genotypes GT + TT are associated with decreased concentrations of levonorgestrel in women with HIV Infections as compared to genotype GG. GT + TT Are Associated with decreased concentrations of in women with Disease:HIV infectious disease GG +1448684682 rs4803419 CYP2B6 levonorgestrel 28187506 Metabolism/PK yes in patients treated with levonorgestrel implant plus efavirenz. The authors hypothesize that the high EFV plasma concentrations associated with these SNPs may result in greater EFV induction of CYP3A4, resulting in increased LNG metabolism and lower LNG exposure in the patients who were heterozygous or homozygous for CYP2B6 516G>T or CYP2B6 15582C>T. Genotype CT is associated with decreased concentrations of levonorgestrel in women with HIV Infections as compared to genotype CC. CT Is Associated with decreased concentrations of in women with Disease:HIV infectious disease CC +1448684688 rs3745274 CYP2B6 efavirenz 28187506 Metabolism/PK yes "in patients treated with levonorgestrel implant plus efavirenz. ""C12-14h values were 2.1, 2.6, and 8.7 mg/L in GG, GT, and TT genotype groups, respectively (76% difference between homozygote groups).""" Genotypes GT + TT are associated with increased concentrations of efavirenz in women with HIV Infections as compared to genotype GG. GT + TT Are Associated with increased concentrations of in women with Disease:HIV infectious disease GG +1444936816 rs11563250 UGT1A bilirubin 25778466 Metabolism/PK yes Carriers of the G allele had a 17.5% decrease in total bilirubin as compared to those with the AA genotype. This suggests that carriers of the G allele may have elevated activity of UGT1A1 (the sole UGT1A enzyme responsible for bilirubin glucuronidation and subsequent elimination). Genotypes AG + GG is associated with decreased concentrations of bilirubin in people with Colorectal Neoplasms as compared to genotype AA. AG + GG Is Associated with decreased concentrations of in people with Disease:Colorectal Neoplasms AA +1452141983 rs28399433 CYP2A6 dexmedetomidine 35873555 Metabolism/PK yes """Female patients aged 18–60 years undergoing laparoscopic with ASA I-II [ASA I: normal healthy patients; ASA II: patients with mild systemic disease"". ""Dexmedetomidine was continuous intravenous infused at 1 μg/kg for 10 min before the induction period of general anesthesia.""""harmacokinetic studies were performed on 99 participants, and pharmacodynamic studies were performed on all participants. All participants had 5 ml of peripheral blood sampled preoperatively for DNA isolation and genetic testing.""" Allele C is associated with decreased clearance of dexmedetomidine in women as compared to allele A. C Is Associated with decreased clearance of in women A +1449749486 CYP3A5*1, CYP3A5*3 CYP3A5 tacrolimus 29735966 Efficacy no No significant difference in renal function after transplantation, rate of delayed graft function, or rate of acute rejection within 30 days after transplant was found between the two genotype groups. CYP3A5 *3/*3 is not associated with response to tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3. *3/*3 Is Not associated with response to in people with Disease:Kidney Transplantation *1/*1 + *1/*3 +1449749453 CYP3A5*1, CYP3A5*3 CYP3A5 tacrolimus 29735966 Metabolism/PK yes Day 7 post-transplant. Additionally, there were significantly more underexposed patients (C0 <5 ng/mL) who had the *1/*1 or *1/*3 genotype, and more overexposed patients (C0 >8 ng/mL) who had the *3/*3 genotype (p=0.045). CYP3A5 genotype was also independently associated with C0 in multivariate logistic regression analysis (p<0.001). CYP3A5 *3/*3 is associated with increased trough concentration of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1/*1 + *1/*3. *3/*3 Is Associated with increased trough concentration of in people with Disease:Kidney Transplantation *1/*1 + *1/*3 +1452627002 CYP2D6 normal metabolizer CYP2D6 clozapine 39344086 Dosage yes """CYP2D6 phenotype was significant for prediction of clozapine, and related to higher dose at NM versus IM, and IM versus PM groups. This model predicted PMs to be administered the lowest chlorpromazine-equivalent dose of clozapine.""" CYP2D6 normal metabolizer is associated with increased dose of clozapine in people with Schizophrenia or Psychotic Disorder as compared to CYP2D6 intermediate metabolizer and poor metabolizer. normal metabolizer Is Associated with increased dose of in people with Other:Schizophrenia, Other:Psychotic Disorder or intermediate metabolizer and poor metabolizer +1450820343 CYP2B6*1, CYP2B6*6 CYP2B6 bupropion 23840296 Metabolism/PK yes Subjects carrying the CYP2B6*6 allele had significantly increased AUCs if bupropion compared to *1/*1 subjects. CYP2B6 *1/*6 + *6/*6 are associated with decreased metabolism of bupropion in healthy individuals as compared to CYP2B6 *1/*1. *1/*6 + *6/*6 Are Associated with decreased metabolism of in healthy individuals *1/*1 +982046569 rs316019 SLC22A2 l-tryptophan 22590580 Metabolism/PK yes A gene dose effect was observed in that clearance of tryptophan decreased in the following manner: CC>AC>AA. Genotype CC is associated with increased clearance of l-tryptophan as compared to genotypes AA + AC. CC Is Associated with increased clearance of AA + AC +981480012 rs585719 citalopram 23158458 Efficacy yes This was only true in African Americans and was attributed to LD with rs76665058. No TT were seen in this cohort. Genotype CT is associated with increased response to citalopram in people with Depression as compared to genotype CC. CT Is Associated with increased response to in people with Disease:Depression CC +1446908428 rs61764370 KRAS capecitabine, cetuximab, oxaliplatin 26162609 Efficacy yes C allele carriers (there were no homozygotes) had a statistically significantly higher rate of complete response (CR) after neoadjuvant therapy and a trend for better 5-year progression-free survival (PFS) and overall survival. Both CR and survival outcomes were independent of the use of cetuximab. Patients received neoadjuvant CAPOX followed by chemoradiotherapy, surgery and adjuvant CAPOX plus or minus cetuximab Genotype AC is associated with increased response to capecitabine, cetuximab and oxaliplatin in people with Rectal Neoplasms as compared to genotype AA. AC Is Associated with increased response to and in people with Disease:Rectal Neoplasms AA +1450123149 rs12456693 SLC14A2 clopidogrel 30487649 Efficacy yes This variant is associated with increased H4 concentration. Allele T is associated with increased response to clopidogrel in people with Coronary Artery Disease as compared to allele C. T Is Associated with increased response to in people with Disease:Coronary Artery Disease C +1450129827 rs4244285 CYP2C19 clopidogrel 30487649 Efficacy yes This variant is associated with decreased H4 concentration, and decreased antiplatelet effects of clopidogrel with a higher PRU. Genotypes AA + AG is associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to genotype GG. AA + AG Is Associated with decreased response to in people with Disease:Coronary Artery Disease GG +1450127378 rs2487032 clopidogrel 30487649 Efficacy yes This variant is associated with decreased Cmax, decreased AUC of clopidogrel, decreased H4 concentration, and decreased antiplatelet effects of clopidogrel with a higher PRU. Allele A is associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to allele G. A Is Associated with decreased response to in people with Disease:Coronary Artery Disease G +1450117776 rs2254638 N6AMT1 clopidogrel 30487649 Efficacy yes This variant is associated with decreased H4 concentration, and decreased antiplatelet effects of clopidogrel with a higher PRU. Allele G is associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to allele A. G Is Associated with decreased response to in people with Disease:Coronary Artery Disease A +1452032900 CYP2C19*1, CYP2C19*17 CYP2C19 amitriptyline, clomipramine 36333412 Other yes Patients with the CYP2C19 ultrarapid metabolizer phenotype (*17/*17) showed higher risk for discontinuation of amitriptyline or clomipramine treatment than extensive metabolizers (*1/*1). Only rs4244285 and rs12248560 were used to define the phenotype. CYP2C19 *17/*17 is associated with increased discontinuation of amitriptyline or clomipramine in people with Bipolar Disorder as compared to CYP2C19 *1/*1. *17/*17 Is Associated with increased discontinuation of or in people with Other:Bipolar Disorder *1/*1 +1183960311 rs121908755 CFTR ivacaftor 24081349 Efficacy not stated A girl with rapidly advancing lung disease was treated with ivacaftor and after 6 weeks of treatment showed clinical improvement (including normalization of sweat chloride, cough was cleared within 3 weeks, ability to engage in school exercise classes by 4 weeks, weight gain, and significantly improved lung function). She had the gating variant CFTR S549N, as well as the class I CFTR variant 1811+1.6kbA>G. Allele A is associated with response to ivacaftor in children with Cystic Fibrosis. A Pediatric Is Associated with response to in children with Disease:Cystic Fibrosis +1452488448 G6PD deficiency G6PD carboxyprimaquine, primaquine, primaquine n-carbamoyl glucuronide 38773528 Metabolism/PK no """In summary, the population pharmacokinetic properties of PQ, CPQ, and PQCG have been characterized and reported here. No statistically significant relationships were seen between the pharmacokinetic parameters and the change in haemoglobin levels in G6PD-deficient patients after a single low dose of primaquine. A single low dose (0.50 mg/kg) of PQ was haematologically safe in this population of G6PD-deficient African males without malaria.""" G6PD deficiency is not associated with increased concentrations of carboxyprimaquine, primaquine or primaquine n-carbamoyl glucuronide in men as compared to G6PD non-deficient. deficiency Is Not associated with increased concentrations of or in men non-deficient +1449560381 rs2231142 ABCG2 lamotrigine 29791014 Metabolism/PK no Allele G is not associated with concentrations of lamotrigine in people with Epilepsy as compared to allele T. G Is Not associated with concentrations of in people with Disease:Epilepsy T +1449560375 rs1128503 ABCB1 lamotrigine 29791014 Metabolism/PK no Allele A is not associated with concentrations of lamotrigine in people with Epilepsy as compared to allele G. A Is Not associated with concentrations of in people with Disease:Epilepsy G +1449560356 rs2011425 UGT1A4 lamotrigine 29791014 Metabolism/PK no Allele G is not associated with concentrations of lamotrigine in people with Epilepsy as compared to allele T. G Is Not associated with concentrations of in people with Disease:Epilepsy T +1449560343 rs2231142 ABCG2 lamotrigine 29791014 Metabolism/PK yes In patients with the AA and AG genotype, steady-state measured and dose-adjusted lamotrigine trough concentration was higher in those administered lamotrigine as compared to the GG genotype and lower in those administered lamotrigine only as compared to the GG genotype. Allele T is associated with increased concentrations of lamotrigine in people with Epilepsy as compared to allele G. T Is Associated with increased concentrations of in people with Disease:Epilepsy G +1449560369 rs7668258 UGT2B7 lamotrigine 29791014 Metabolism/PK no Allele T is not associated with concentrations of lamotrigine in people with Epilepsy as compared to allele C. T Is Not associated with concentrations of in people with Disease:Epilepsy C +1449560363 rs6755571 UGT1A4 lamotrigine 29791014 Metabolism/PK no Allele A is not associated with concentrations of lamotrigine in people with Epilepsy as compared to allele C. A Is Not associated with concentrations of in people with Disease:Epilepsy C +1451221008 rs4680 COMT opioids 27729204 Dosage yes G allele is referred to as the 'Val' allele in the paper. Patients with the GG genotype had significantly increased opioid consumption, as measured in morphine equivalents, compared to AA or AG patients. Genotype GG is associated with increased dose of opioids in women with Breast Neoplasms and Pain, Postoperative as compared to genotypes AA + AG. GG Is Associated with increased dose of in women with """Other:Breast Neoplasms"", ""Other:Pain, Postoperative""" and AA + AG +1450811573 rs1045642 ABCB1 methadone 18424454 Dosage no Please note that alleles have been complemented to the positive strand. Genotypes were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone. Genotype AA is not associated with dose of methadone in people with Heroin Dependence as compared to genotypes AG + GG. AA Is Not associated with dose of in people with Other:Heroin Dependence AG + GG +1450811579 rs1128503 ABCB1 methadone 18424454 Dosage yes Please note that alleles have been complemented to the positive strand. Genotype AA is associated with increased dose of methadone in people with Heroin Dependence as compared to genotypes AG + GG. AA Is Associated with increased dose of in people with Other:Heroin Dependence AG + GG +1450811587 rs2520464 ABCB1 methadone 18424454 Dosage no Please note that alleles have been complemented to the positive strand. Genotypes were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone. Genotype TT is not associated with dose of methadone in people with Heroin Dependence as compared to genotypes CC + CT. TT Is Not associated with dose of in people with Other:Heroin Dependence CC + CT +1450811595 rs6949448 ABCB1 methadone 18424454 Dosage no Please note that alleles have been complemented to the positive strand. Alleles were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone. Allele T is not associated with dose of methadone in people with Heroin Dependence as compared to allele C. T Is Not associated with dose of in people with Other:Heroin Dependence C +1450811601 rs2235067 ABCB1 methadone 18424454 Dosage no Please note that alleles have been complemented to the positive strand. Alleles were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone. Allele C is not associated with dose of methadone in people with Heroin Dependence as compared to allele T. C Is Not associated with dose of in people with Other:Heroin Dependence T +1450811607 rs2032583 ABCB1 methadone 18424454 Dosage no Please note that alleles have been complemented to the positive strand. Alleles were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone. Allele G is not associated with dose of methadone in people with Heroin Dependence as compared to allele A. G Is Not associated with dose of in people with Other:Heroin Dependence A +1450811613 rs2032582 ABCB1 methadone 18424454 Dosage no Please note that alleles have been complemented to the positive strand. Alleles were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone. Allele A is not associated with dose of methadone in people with Heroin Dependence as compared to allele C. A Is Not associated with dose of in people with Other:Heroin Dependence C +1450811619 rs1922242 ABCB1 methadone 18424454 Dosage no Please note that alleles have been complemented to the positive strand. Alleles were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone. Allele A is not associated with dose of methadone in people with Heroin Dependence as compared to allele T. A Is Not associated with dose of in people with Other:Heroin Dependence T +1450811625 rs3789243 ABCB1 methadone 18424454 Dosage no Please note that alleles have been complemented to the positive strand. Alleles were not associated with the need for a higher (>150mg) or lower (<150 mg) dose of methadone. Allele G is not associated with dose of methadone in people with Heroin Dependence as compared to allele A. G Is Not associated with dose of in people with Other:Heroin Dependence A +1448603574 CYP2D6*1, CYP2D6*2, CYP2D6*4, CYP2D6*5, CYP2D6*6, CYP2D6*9, CYP2D6*17, CYP2D6*41 CYP2D6 oxymorphone 28244808 Metabolism/PK yes EMs were genotypes as *1/*1, *1/*9, *2A/*9, *1/*2A, *2A/*2A, IMs were *1/*4, *1/*6, *17/*41, *2A/*4, *2A/*5, PM was *4/*41. CYP2D6 *1/*1 + *1/*9 + *2/*9 + *1/*2 + *2/*2 (assigned as normal metabolizer phenotype) is associated with increased exposure to oxymorphone in children with as compared to CYP2D6 *1/*4 + *1/*6 + *17/*41 + *2/*4 + *2/*5 + *4/*41 (assigned as intermediate metabolizer and poor metabolizer phenotype) . *1/*1 + *1/*9 + *2/*9 + *1/*2 + *2/*2 Pediatric normal metabolizer Is Associated with increased exposure to in children with *1/*4 + *1/*6 + *17/*41 + *2/*4 + *2/*5 + *4/*41 intermediate metabolizer and poor metabolizer +1184998169 rs776746 CYP3A5 tacrolimus 21698374 Dosage, Metabolism/PK yes In pediatric kidney transplantation recipients, CYP3A5 expressers needed higher tacrolimus dose (0.14 mg/kg vs 0.09 mg/kg/12h) than CYP3A5 non-expressers. CYP3A5 expressers also needed more upward dose changes and had lower median tacrolimus concentration and lower C/D ratios. Multivariate analysis showed youger age and CYP3A5 expresser genotype were independently associated with higher tacrolimus dose requirement. Genotypes CT + TT is associated with increased metabolism of tacrolimus in children with Kidney Transplantation as compared to genotype CC. CT + TT Pediatric Is Associated with increased metabolism of in children with Disease:Kidney Transplantation CC +1184998180 rs776746 CYP3A5 tacrolimus 21698374 Dosage, Metabolism/PK no In pediatric liver transplantation recipients, CYP3A5 genotype was not associated with tacrolimus dose, meadian tacrolimus concentration and lower C/D ratios. Genotypes CT + TT are not associated with metabolism of tacrolimus in children with liver transplantation as compared to genotype CC. CT + TT Pediatric Are Not associated with metabolism of in children with Disease:Liver transplantation CC +1451639883 rs35599367 CYP3A4 pazopanib 30367352 Metabolism/PK yes There were homozygous AA in the cohort. Alleles complemented to plus chromosomal strand. Variant described as CYP3A4 rs35599367 15389C>T *22 Genotype AG is associated with decreased clearance of pazopanib in people with Neoplasms as compared to genotype GG. AG Is Associated with decreased clearance of in people with Other:Neoplasms GG +1451639920 rs2231142 ABCG2 pazopanib 30367352 Metabolism/PK no Alleles complemented to plus chromosomal strand. Genotypes GT + TT is not associated with decreased clearance of pazopanib in people with Neoplasms as compared to genotype GG. GT + TT Is Not associated with decreased clearance of in people with Other:Neoplasms GG +1451639980 rs2231137 ABCG2 pazopanib 30367352 Metabolism/PK no No homozygous TT observed. Alleles complemented to plus chromosomal strand. Genotype CT is not associated with decreased clearance of pazopanib in people with Neoplasms as compared to genotype CC. CT Is Not associated with decreased clearance of in people with Other:Neoplasms CC +1448125906 CYP2C19*2, CYP2C19*3, CYP2C19*17 CYP2C19 esomeprazole, pantoprazole 27419077 Metabolism/PK yes Blood samples were collected to determine plasma concentration at 0, 1, 3, 4, 6, and 24 hours after the dose on the first and last day of administration CYP2C19 *17/*17 is associated with increased clearance of esomeprazole and pantoprazole in healthy individuals as compared to CYP2C19 *2/*3. *17/*17 Is Associated with increased clearance of and in healthy individuals *2/*3 +1452484920 CYP2D6 ultrarapid metabolizer CYP2D6 paroxetine 38776596 Metabolism/PK yes """we found that the paroxetine Css of PMs, IMs, and UMs were 2.50, 1.12, and 0.39 times that of EMs, respectively, with PM and UM effects being statistically significant (multiple linear regression, exponentiated β = 2.50, 95% CI: 1.08–5.76, P = 0.03; exponentiated β = 0.39, 95% CI: 0.15–0.97, P = 0.04, respectively).""" CYP2D6 ultrarapid metabolizer is associated with decreased steady-state concentration of paroxetine in people with Depressive Disorder, Major, Anxiety Disorders or Panic Disorder as compared to CYP2D6 normal metabolizer. ultrarapid metabolizer Is Associated with decreased steady-state concentration of in people with Other:Major Depressive Disorder, Other:Anxiety Disorders, Other:Panic Disorder or normal metabolizer +1452484940 CYP2D6 ultrarapid metabolizer CYP2D6 paroxetine 38776596 Efficacy yes """At the 4-week treatment endpoint (Supplementary Table S2), we observed a trend of lower percentage improvement in symptom severity for UMs compared to EMs in the MDD group, after adjusting for predefined demographic covariates (age and sex), which was not statistically significant (multiple linear regression, standardized β = −0.93, SE = 0.50, P = 0.07). However, in post-hoc analysis, when further adjusting for current episode duration, baseline symptom severity, daily dose, and adjunctive medication status, the effect of UM became marginally statistically significant (standardized β = −0.98, SE = 0.50, P = 0.049).""" CYP2D6 ultrarapid metabolizer is associated with decreased clinical benefit to paroxetine in people with Depressive Disorder, Major as compared to CYP2D6 normal metabolizer. ultrarapid metabolizer Is Associated with decreased clinical benefit to in people with Other:Major Depressive Disorder normal metabolizer +1452101191 rs966775 DRD1 fentanyl 37176129 Efficacy yes """Compared with non-carriers, G-allele carriers of this SNP were associated with higher plasma and/or effect-site MECs of fentanyl, suggesting that G allele carriers would feel pain at a higher plasma/effect-site fentanyl concentration and thus would require more frequent self-dosing of fentanyl for adequate pain control. """ Genotypes AG + GG is associated with increased concentrations of fentanyl in people with Pain, Postoperative as compared to genotype AA. AG + GG Is Associated with increased concentrations of in people with Other:Pain, Postoperative AA +1450814910 rs17584499 PTPRD pioglitazone 23147557 Efficacy yes Patients with the CC genotype showed significantly greater decreases in postprandial plasma glucose levels after 3 months of pioglitazone treatment. However, changes in other biochemical measures were not significant. Genotype CC is associated with increased response to pioglitazone in people with Diabetes Mellitus, Type 2 as compared to genotypes CT + TT. CC Is Associated with increased response to in people with Other:Diabetes Mellitus, Type 2 CT + TT +1450814898 rs1801282 PPARG pioglitazone 23147557 Efficacy yes Patients with the CG genotype showed significantly greater decreases in fasting plasma glucose levels and triglyceride levels after 3 months of pioglitazone treatment. However, changes in other biochemical measures were not significant. Genotype CG is associated with increased response to pioglitazone in people with Diabetes Mellitus, Type 2 as compared to genotype CC. CG Is Associated with increased response to in people with Other:Diabetes Mellitus, Type 2 CC +1452643620 CYP2D6 poor metabolizer CYP2D6 fluvoxamine 9517369 Metabolism/PK no "Subjects are phenotyped with dextromethorphan. 2Pms and 8EMs. Fluvoxamine dose was steadily increased over 4 weeks.""The two CYP2D6 PMs had AUC values in the same range as the EMs.""" CYP2D6 poor metabolizer is not associated with increased concentrations of fluvoxamine in healthy individuals as compared to CYP2D6 normal metabolizer. poor metabolizer Is Not associated with increased concentrations of in healthy individuals normal metabolizer +1452416580 rs80034486 CFTR elexacaftor / tezacaftor / ivacaftor 37569738 Efficacy not stated """Elexacaftor/tezacaftor/ivacaftor (ETI) therapy improves clinical outcomes in the N1303K/N1303K patient.""" Genotype GG is associated with increased clinical benefit to elexacaftor / tezacaftor / ivacaftor in people with Cystic Fibrosis. GG Is Associated with increased clinical benefit to in people with Other:Cystic Fibrosis +1452416586 rs75961395 CFTR elexacaftor / tezacaftor / ivacaftor 37569738 Efficacy not stated """Elexacaftor/tezacaftor/ivacaftor (ETI) therapy improves clinical outcomes in the G85E/G85E patient.""" Genotype AA is associated with increased clinical benefit to elexacaftor / tezacaftor / ivacaftor in people with Cystic Fibrosis. AA Pediatric Is Associated with increased clinical benefit to in people with Other:Cystic Fibrosis +1451106680 rs28363170 SLC6A3 disulfiram 31087723 Efficacy yes GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT allele referred to in the paper as the 10-repeat allele. Patients with the 10,10-repeat genotype showed a significantly greater decrease in the number of cocaine-positive urine tests and a significantly greater increase in the number of cocaine-negative urine tests than patients with either the 9,9-repeat or 9,10-repeat genotypes. This association was not seen in genotyped patients treated with placebo. Genotype GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT/GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT is associated with increased response to disulfiram in people with Cocaine-Related Disorders as compared to genotypes GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT/del + del/del. GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT/GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT Is Associated with increased response to in people with Other:Cocaine dependence GGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCAGT/del + del/del +1444843486 rs8099917 IFNL3 peginterferon alfa-2a, peginterferon alfa-2b, ribavirin 26075078 Efficacy yes A multivariate logistic model showed that the IL28B major genotype (TT) was an independent factor contributing to SVR (OR, 7.14; 95% CI, 2.19-23.22; P=0.001). Genotype TT is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic and Hepatitis C, Chronic as compared to genotypes GG + GT. TT Is Associated with increased response to and in people with Disease:Chronic hepatitis C virus infection GG + GT +1444843476 rs3828913 MICB peginterferon alfa-2a, peginterferon alfa-2b, ribavirin 26075078 Efficacy yes Patients with MICB major (CC) alleles had higher SVR rate (62.3%) than that of the patients with MICB minor (CA and AA) alleles (27.2%). A multivariate logistic model showed that the MICB major genotype (CC) was an independent factor contributing to SVR (OR, 4.47; 95% CI, 1.46-13.70; P=0.009), similar to the IL28B major genotype (rs8099917). Genotype CC is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C, Chronic as compared to genotypes AA + AC. CC Is Associated with increased response to and in people with Disease:Chronic hepatitis C virus infection AA + AC +1449311424 rs4149056 SLCO1B1 conjugated estrogens 29738412 Metabolism/PK yes Genotype TT is associated with decreased concentrations of conjugated estrogens in women with Menopause as compared to genotypes CC + CT. TT Is Associated with decreased concentrations of in women with Disease:Menopause CC + CT +1449311443 rs4149056 SLCO1B1 conjugated estrogens 29738412 Efficacy no No association between genotype and change in symptom scores for hot flashes, insomnia or total symptoms following hormonal therapy was observed. Genotype CT is not associated with response to conjugated estrogens in women with Menopause as compared to genotype TT. CT Is Not associated with response to in women with Disease:Menopause TT +1449311435 rs4149056 SLCO1B1 conjugated estrogens 29738412 Efficacy yes Women with the CT genotype had a significantly increased reduction in night sweats following hormonal therapy than women with the TT genotype. Genotype CT is associated with increased response to conjugated estrogens in women with Menopause as compared to genotype TT. CT Is Associated with increased response to in women with Disease:Menopause TT +1447675769 rs465646 REV3L cisplatin 25748439 Efficacy no This SNP not significantly associated with event-free survival (p = 0.601) or overall survival (p = 0.335), as determined by recurrence or death, with mean follow-up time of 143 months. Genotypes AG + GG are not associated with increased response to cisplatin in people with Osteosarcoma as compared to genotype AA. AG + GG Are Not associated with increased response to in people with Disease:Osteosarcoma AA +1447675725 rs462779 REV3L cisplatin 25748439 Efficacy yes Outcomes measured as event-free survival (p=0.056) and overall survival (p=0.018). Manuscript gives alleles as T and C. Genotypes AG + GG are associated with decreased response to cisplatin in people with Osteosarcoma as compared to genotype AA. AG + GG Are Associated with decreased response to in people with Disease:Osteosarcoma AA +1447675704 rs3087403 REV1 cisplatin 25748439 Efficacy yes Presence of at least one T allele is associated with reduced event-free survival (p = 0.004) and overall survival (p < 0.001), with followup until recurrence or death, with a mean follow-up of 143 months. Genotypes CT + TT are associated with increased response to cisplatin in people with Osteosarcoma as compared to genotype CC. CT + TT Are Associated with increased response to in people with Disease:Osteosarcoma CC +1447675754 rs3204953 REV3L cisplatin 25748439 Efficacy no This SNP is not associated with event-free survival (p = 0.998) or overall survival (p = 0.265), as determined by recurrence or death, with mean follow-up time of 143 months. Genotypes CT + TT are not associated with increased response to cisplatin in people with Osteosarcoma as compared to genotype CC. CT + TT Are Not associated with increased response to in people with Disease:Osteosarcoma CC +1447675738 rs3087386 REV1 cisplatin 25748439 Efficacy no This SNP is not associated with event-free survival (p = 0.744) or overall survival (p = 0.189), as determined by recurrence or death. Mean follow-up time was 143 months. Genotypes AA + AG are not associated with increased response to cisplatin in people with Osteosarcoma as compared to genotype GG. AA + AG Are Not associated with increased response to in people with Disease:Osteosarcoma GG +1447675747 rs3087399 REV1 cisplatin 25748439 Efficacy no This SNP was not associated with event-free survival (p = 0.458) or overall survival (p = 0.707), as determined by recurrence or death, with a mean follow-up time of 143 months. Genotypes CC + CT are not associated with increased response to cisplatin in people with Osteosarcoma as compared to genotype TT. CC + CT Are Not associated with increased response to in people with Disease:Osteosarcoma TT +1452788680 rs1800497 DRD2 lithium, olanzapine 39660002 Efficacy yes """The early response in the 2nd week correlates with genotype GG (see Table 5). The higher early response in the 2nd week in patients with genotype GG of DRD2 gene polymorphism rs1800497 was found than that in patients with genotype AA + AG. Remission in the 8th week also correlates with genotyp GG (see Table 6). The higher remission in the 8th week in patients with genotype GG of DRD2 gene polymorphism rs1800497 was found than that in patients with genotype AA + AG."" ""Manic patients with genotype GG had a greater improvement in the YMRS score due to a greater early effective response and remission, which was not related to higher doses and serum concentrations of olanzapine and lithium.""" Genotype GG is associated with increased clinical benefit to lithium and olanzapine in people with Bipolar Disorder as compared to genotypes AA + AG. GG Is Associated with increased clinical benefit to and in people with Other:Bipolar Disorder AA + AG +1451213340 UGT1A1*1, UGT1A1*28 UGT1A1 irinotecan 28367249 Efficacy no Meta-analysis of studies of Asian subjects with lung cancer (small-cell and non-small cell) from China, Korea, and Japan treated with irinotecan-based chemotherapy. UGT1A1 *1/*28 + *28/*28 is not associated with increased response to irinotecan in people with Lung Neoplasms as compared to UGT1A1 *1/*1. *1/*28 + *28/*28 Is Not associated with increased response to in people with Other:Lung Neoplasms *1/*1 +1448617859 rs4148323 UGT1A1 irinotecan 28367249 Efficacy no Meta-analysis of studies of Asian subjects with lung cancer (small-cell and non-small cell) from China, Korea, and Japan treated with irinotecan-based chemotherapy. Allele A is not associated with response to irinotecan in people with Lung Neoplasms as compared to allele G. A Is Not associated with response to in people with Disease:Lung Neoplasms G +1449170923 CYP3A5 poor metabolizer and intermediate metabolizer genotypes CYP3A5 tamoxifen 29436156 Metabolism/PK no CYP3A5 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of tamoxifen in women with Breast Neoplasms. intermediate metabolizer and poor metabolizer Are Not associated with concentrations of in women with Disease:Breast Neoplasms +1449170929 CYP2C9 poor metabolizer and intermediate metabolizer genotypes CYP2C9 tamoxifen 29436156 Metabolism/PK no CYP2C9 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of tamoxifen in women with Breast Neoplasms. intermediate metabolizer and poor metabolizer Are Not associated with concentrations of in women with Disease:Breast Neoplasms +1449170911 CYP2D6 poor metabolizer and intermediate metabolizer genotypes CYP2D6 tamoxifen 29436156 Metabolism/PK no CYP2D6 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of tamoxifen in women with Breast Neoplasms. intermediate metabolizer and poor metabolizer Are Not associated with concentrations of in women with Disease:Breast Neoplasms +1449170893 CYP3A4 poor metabolizer and intermediate metabolizer genotypes CYP3A4 N-desmethyltamoxifen 29436156 Metabolism/PK no CYP3A4 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of n-desmethyltamoxifen in women with Breast Neoplasms. intermediate metabolizer and poor metabolizer Are Not associated with concentrations of in women with Disease:Breast Neoplasms +1449170868 CYP3A4 poor metabolizer and intermediate metabolizer genotypes CYP3A4 4-hydroxytamoxifen 29436156 Metabolism/PK no CYP3A4 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of 4-hydroxytamoxifen in women with Breast Neoplasms. intermediate metabolizer and poor metabolizer Are Not associated with concentrations of in women with Disease:Breast Neoplasms +1449170875 CYP3A5 poor metabolizer and intermediate metabolizer genotypes CYP3A5 4-hydroxytamoxifen 29436156 Metabolism/PK no CYP3A5 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of 4-hydroxytamoxifen in women with Breast Neoplasms. intermediate metabolizer and poor metabolizer Are Not associated with concentrations of in women with Disease:Breast Neoplasms +1449170881 CYP2C9 poor metabolizer and intermediate metabolizer genotypes CYP2C9 4-hydroxytamoxifen 29436156 Metabolism/PK no CYP2C9 poor metabolizer and intermediate metabolizer genotypes are associated with concentrations of 4-hydroxytamoxifen in women with Breast Neoplasms. intermediate metabolizer and poor metabolizer Are Associated with concentrations of in women with Disease:Breast Neoplasms +1449170862 CYP2D6 poor metabolizer and intermediate metabolizer genotypes CYP2D6 4-hydroxytamoxifen 29436156 Metabolism/PK no CYP2D6 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of 4-hydroxytamoxifen in women with Breast Neoplasms. intermediate metabolizer and poor metabolizer Are Not associated with concentrations of in women with Disease:Breast Neoplasms +1449170844 CYP3A4 poor metabolizer and intermediate metabolizer genotypes CYP3A4 endoxifen 29436156 Metabolism/PK no CYP3A4 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of endoxifen in women with Breast Neoplasms. intermediate metabolizer and poor metabolizer Are Not associated with concentrations of in women with Disease:Breast Neoplasms +1449170850 CYP3A5 poor metabolizer and intermediate metabolizer genotypes CYP3A5 endoxifen 29436156 Metabolism/PK no CYP3A5 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of endoxifen in women with Breast Neoplasms. intermediate metabolizer and poor metabolizer Are Not associated with concentrations of in women with Disease:Breast Neoplasms +1449170836 CYP2D6 poor metabolizer and intermediate metabolizer genotypes CYP2D6 endoxifen 29436156 Metabolism/PK yes CYP2D6 poor metabolizer and intermediate metabolizer genotypes are associated with concentrations of endoxifen in women with Breast Neoplasms. intermediate metabolizer and poor metabolizer Are Associated with concentrations of in women with Disease:Breast Neoplasms +1449170887 CYP2D6 poor metabolizer and intermediate metabolizer genotypes CYP2D6 N-desmethyltamoxifen 29436156 Metabolism/PK no CYP2D6 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of n-desmethyltamoxifen in women with Breast Neoplasms. intermediate metabolizer and poor metabolizer Are Not associated with concentrations of in women with Disease:Breast Neoplasms +1449170899 CYP3A5 poor metabolizer and intermediate metabolizer genotypes CYP3A5 N-desmethyltamoxifen 29436156 Metabolism/PK no CYP3A5 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of n-desmethyltamoxifen in women with Breast Neoplasms. intermediate metabolizer and poor metabolizer Are Not associated with concentrations of in women with Disease:Breast Neoplasms +1449170905 CYP2C9 poor metabolizer and intermediate metabolizer genotypes CYP2C9 N-desmethyltamoxifen 29436156 Metabolism/PK no CYP2C9 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of n-desmethyltamoxifen in women with Breast Neoplasms. intermediate metabolizer and poor metabolizer Are Not associated with concentrations of in women with Disease:Breast Neoplasms +1449170917 CYP3A4 poor metabolizer and intermediate metabolizer genotypes CYP3A4 tamoxifen 29436156 Metabolism/PK no CYP3A4 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of tamoxifen in women with Breast Neoplasms. intermediate metabolizer and poor metabolizer Are Not associated with concentrations of in women with Disease:Breast Neoplasms +1449170856 CYP2C9 poor metabolizer and intermediate metabolizer genotypes CYP2C9 endoxifen 29436156 Metabolism/PK no CYP2C9 poor metabolizer and intermediate metabolizer genotypes are not associated with concentrations of endoxifen in women with Breast Neoplasms. intermediate metabolizer and poor metabolizer Are Not associated with concentrations of in women with Disease:Breast Neoplasms +1448257516 CYP2B6*1, CYP2B6*6 CYP2B6 bupropion 27528039 Metabolism/PK no The AUC of steady state was compared. CYP2B6 *6 is associated with increased steady-state concentration of bupropion in women with Pregnancy as compared to CYP2B6 *1. *6 Is Associated with increased steady-state concentration of in women with Disease:Pregnancy *1 +1448257502 CYP2B6*1, CYP2B6*6 CYP2B6 bupropion 27528039 Metabolism/PK no CYP2B6 *6 is associated with decreased metabolism of bupropion in women with Pregnancy as compared to CYP2B6 *1. *6 Is Associated with decreased metabolism of in women with Disease:Pregnancy *1 +1448257532 CYP2C19*2, CYP2C19*3, CYP2C19*17 CYP2C19 bupropion 27528039 Metabolism/PK yes CYP2C19 *2 + *3 (assigned as intermediate metabolizer and poor metabolizer phenotype) are associated with decreased metabolism of bupropion in women with Pregnancy as compared to CYP2C19 *17 (assigned as normal metabolizer phenotype) . *2 + *3 intermediate metabolizer and poor metabolizer Are Associated with decreased metabolism of in women with Disease:Pregnancy *17 normal metabolizer +1449732350 CYP2C19*1, CYP2C19*17 CYP2C19 voriconazole 29967027 Efficacy not stated "Case report. A 39-year-old woman developed central nervous system aspergillosis. She was treated with therapeutic drug monitoring-guided voriconazole therapy. Optimal trough concentrations were difficult to reach despite very high doses of voriconazole. Caspofungin was added, and voriconazole dose was increased to 400mg t.i.d. The patient was then found to be heterozygous for the CYP2C19*17 variant. One month after combined and adjusted dose of voriconazole, patient had clinical improvement. Authors state that this CYP2C19 mutation was ""partially responsible for the therapeutic failure of voriconazole""." CYP2C19 *1/*17 is associated with decreased response to voriconazole in people with Mycoses. *1/*17 Is Associated with decreased response to in people with Disease:Mycoses +1449732339 CYP2C19*17 CYP2C19 voriconazole 29967027 Efficacy not stated "Case report. A 75-year-old woman developed central nervous system aspergillosis. She was treated with therapeutic drug monitoring-guided voriconazole therapy. Optimal trough concentrations were difficult to reach despite very high doses of voriconazole. The patient was then found to be homozygous for the CYP2C19*17 variant. Treatment was changed to isavuconazole. Four months after isavuconazole introduction, clinical outcome was favorable. Authors state that this CYP2C19 mutation was ""partially responsible for the therapeutic failure of voriconazole""." CYP2C19 *17/*17 is associated with decreased response to voriconazole in people with Mycoses. *17/*17 Is Associated with decreased response to in people with Disease:Mycoses +1450928764 rs2036527 CHRNA5 bupropion, nicotine, varenicline 29621993 Efficacy yes Women with the AA or AG genotypes were more likely to be abstinent from smoking at 6 months after starting pharmacotherapy for smoking cessation compared to those with the GG genotype. Genotypes AA + AG are associated with increased response to bupropion, nicotine or varenicline in women with Tobacco Use Disorder as compared to genotype GG. AA + AG Are Associated with increased response to or in women with Other:Tobacco Use Disorder GG +1450928770 rs16969968 CHRNA5 bupropion, nicotine, varenicline 29621993 Efficacy yes Women with the AA or AG genotypes were more likely to be abstinent from smoking at 6 months after starting pharmacotherapy for smoking cessation compared to those with the GG genotype. Genotypes AA + AG are associated with increased response to bupropion, nicotine or varenicline in women with Tobacco Use Disorder as compared to genotype GG. AA + AG Are Associated with increased response to or in women with Other:Tobacco Use Disorder GG +1450928777 rs16969968 CHRNA5 bupropion, nicotine, varenicline 29621993 Efficacy no No significant effect of genotype on likelihood of male subjects being abstinent from smoking at 6 months after starting pharmacotherapy for smoking cessation. Allele A is not associated with response to bupropion, nicotine or varenicline in men with Tobacco Use Disorder as compared to genotype GG. A Is Not associated with response to or in men with Other:Tobacco Use Disorder GG +1450928783 rs2036527 CHRNA5 bupropion, nicotine, varenicline 29621993 Efficacy no No significant effect of genotype on likelihood of male subjects being abstinent from smoking at 6 months after starting pharmacotherapy for smoking cessation. Allele A is not associated with response to bupropion, nicotine or varenicline in men with Tobacco Use Disorder as compared to allele G. A Is Not associated with response to or in men with Other:Tobacco Use Disorder G +1450928789 rs2472553 CHRNA2 bupropion, nicotine, varenicline 29621993 Efficacy no No significant effect of genotype on likelihood of being abstinent from smoking at 6 months after starting pharmacotherapy for smoking cessation. Please note that alleles have been complemented to the positive strand. Allele A is not associated with response to bupropion, nicotine or varenicline in people with Tobacco Use Disorder as compared to allele G. A Is Not associated with response to or in people with Other:Tobacco Use Disorder G +1450928798 rs1051730 CHRNA3 bupropion, nicotine, varenicline 29621993 Efficacy no No significant effect of genotype on likelihood of being abstinent from smoking at 6 months after starting pharmacotherapy for smoking cessation. Please note that alleles have been complemented to the positive strand. Allele A is not associated with response to bupropion, nicotine or varenicline in people with Tobacco Use Disorder as compared to allele G. A Is Not associated with response to or in people with Other:Tobacco Use Disorder G +1450928806 rs6474413 CHRNB3 bupropion, nicotine, varenicline 29621993 Efficacy no No significant effect of genotype on likelihood of being abstinent from smoking at 6 months after starting pharmacotherapy for smoking cessation. Please note that alleles have been complemented to the positive strand. Allele T is not associated with response to bupropion, nicotine or varenicline in people with Tobacco Use Disorder as compared to allele C. T Is Not associated with response to or in people with Other:Tobacco Use Disorder C +769164370 rs10975641 GLDC citalopram, escitalopram 21107318 Efficacy yes "Be careful- GC SNP. The paper states that the minor allele was assoc with decreased odds for remission(in the original cohort), and from dbSNP freq/orientation of fastA compared to Golden path, I believe G on the + chr strand to be the minor allele. For the STAR*D study, remission was not found to be significantly associated; the significant association was with ""the binary phenotype ""response""""." Allele G is associated with increased response to citalopram and escitalopram in people with Depressive Disorder, Major as compared to allele C. G Is Associated with increased response to and in people with Disease:Major Depressive Disorder C +1451404282 CYP2D6 poor metabolizer and intermediate metabolizer genotypes CYP2D6 codeine 33750887 Efficacy not stated Fewer patients in the pooled PM/IM group were categorized as responders to codeine compared to the pooled NM/UM group. Authors tested for the following alleles: *2, *3, *4, *5, *6, *9, *10, *17, *29, *35, *41, and *42 as well as copy number variation. Diplotypes were mapped to phenotpye groups using the methods in the CPIC/DPWG CYP2D6 Standardization Project. CYP2D6 poor metabolizer and intermediate metabolizer genotypes are associated with decreased response to codeine in people with Pain as compared to CYP2D6 normal metabolizer and ultrarapid metabolizer genotypes. intermediate metabolizer and poor metabolizer Are Associated with decreased response to in people with Other:Pain normal metabolizer and ultrarapid metabolizer +1184471936 rs11479 TYMP capecitabine, fluorouracil 24167597 Dosage yes "Clinical data about adverse events were collected from patient records and laboratory charts for 12 weeks after the initiation of therapy. Delays or reductions in the administration of 5'FU or capecitabine due to adverse events were recorded as primary outcomes, and grade 3,4,5 adverse events were analyzed as secondary outcomes. ""Dose"" here refers to dose modification." Genotypes AA + AG is associated with dose of capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotype GG. AA + AG Is Associated with dose of or in people with Disease:Colorectal Neoplasms GG +1184471941 rs3918290 DPYD capecitabine, fluorouracil 24167597 Dosage yes "Clinical data about adverse events were collected from patient records and laboratory charts for 12 weeks after the initiation of therapy. Delays or reductions in the administration of 5'FU or capecitabine due to adverse events were recorded as primary outcomes, and grade 3,4,5 adverse events were analyzed as secondary outcomes. ""Dose"" here refers to dose modification. Note: the reported parameters for this SNP are really for a haplotype (the authors refer to it as a ""signature"") that includes any minor alleles for the following SNPs: rs3918290 (T), rs67376798 (A), rs75017182(C), rs56038477 (T)." Genotype CT is associated with dose of capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotype CC. CT Is Associated with dose of or in people with Disease:Colorectal Neoplasms CC +1184471945 rs67376798 DPYD capecitabine, fluorouracil 24167597 Dosage yes "Clinical data about adverse events were collected from patient records and laboratory charts for 12 weeks after the initiation of therapy. Delays or reductions in the administration of 5'FU or capecitabine due to adverse events were recorded as primary outcomes, and grade 3,4,5 adverse events were analyzed as secondary outcomes. ""Dose"" here refers to dose modification. Note: the reported parameters for this SNP are really for what the authors refer to as a ""DPYD signature"" that includes any minor alleles for the following SNPs in DPYD: rs3918290 (T), rs67376798 (A), rs75017182(C), rs56038477 (T)." Genotype AT is associated with dose of capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotype TT. AT Is Associated with dose of or in people with Disease:Colorectal Neoplasms TT +1184471949 rs75017182 DPYD capecitabine, fluorouracil 24167597 Dosage yes "Clinical data about adverse events were collected from patient records and laboratory charts for 12 weeks after the initiation of therapy. Delays or reductions in the administration of 5'FU or capecitabine due to adverse events were recorded as primary outcomes, and grade 3,4,5 adverse events were analyzed as secondary outcomes. ""Dose"" here refers to dose modification.; Note: the reported parameters for this SNP are really for a haplotype (the authors refer to it as a ""signature"") that includes any minor alleles for the following SNPs: rs3918290 (T), rs67376798 (A), rs75017182(C), rs56038477 (T)." Genotype CG is associated with dose of capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotype GG. CG Is Associated with dose of or in people with Disease:Colorectal Neoplasms GG +1448124443 rs56038477 DPYD capecitabine, fluorouracil 24167597 Dosage yes "Clinical data about adverse events were collected from patient records and laboratory charts for 12 weeks after the initiation of therapy. Delays or reductions in the administration of 5'FU or capecitabine due to adverse events were recorded as primary outcomes, and grade 3,4,5 adverse events were analyzed as secondary outcomes. ""Dose"" here refers to dose modification. Note: the reported parameters for this SNP are really for what the authors refer to as a ""DPYD signature"" that includes any minor alleles for the following SNPs in DPYD: rs3918290 (T), rs67376798 (A), rs75017182(C), rs56038477 (T)." Genotype CT is associated with dose of capecitabine or fluorouracil in people with Colorectal Neoplasms as compared to genotype CC. CT Is Associated with dose of or in people with Disease:Colorectal Neoplasms CC +1448633907 rs2108622 CYP4F2 warfarin 28620303 Dosage yes The T allele was associated with increased stable dose (mg/day) of warfarin and explained 4.3% of the variance in dose. CC=3.7±0.1 CT=4.3±0.2 TT=5.3±0.4. The addition of rs2108622 to PGx algorithm (included CYP2C9, VKORC1) explained a further 0.5–0.7% of variability. When conditioned on rs7248867, the association w/ rs2108622 & warfarin dose decreased (beta initial = 0.078, beta conditional = 0.065, initial P-value = 0.003, conditional P-value = 0.015). When conditioned on rs2074568, decrease of magnitude and significance also rs2108622 (beta conditional = 0.069, conditional P-value= 0.009). Suggests that rs7248867 and rs2074568 are correlated with rs2108622. Allele T is associated with increased dose of warfarin as compared to allele C. T Is Associated with increased dose of C +1448633915 rs1060467 CYP4F11 warfarin 28620303 Dosage yes The G allele was associated with a decrease in stable warfarin dose and accounted for 2.6% of the variance. AA= 4.6 ± 0.2, AG = 3.9 ± 0.1 GG = 3.8 ± 0.2. The addition of rs1060467 to PGx algorithm (included CYP2C9, VKORC1) explained a further 0.5–0.7% of variability. When conditioned on rs1060467, the association w/ rs2108622 & warfarin dose decreased (beta initial = 0.078, beta conditional = 0.063, initial P-value = 0.003, conditional P-value = 0.05). Alleles have been complemented to the positive strand. Allele G is associated with decreased dose of warfarin as compared to allele A. G Is Associated with decreased dose of A +827921704 rs1876828 CRHR1 glucocorticoids 22641026 Efficacy yes as part of a two SNP predictive test of FEV1 change, which identified patients with good or poor steroid response (highest or lowest quartile, respectively). P values are for predictive performance of the test. Allele T is associated with increased response to glucocorticoids in people with Asthma as compared to allele C. T Is Associated with increased response to in people with Disease:Asthma C +827921716 rs37973 GLCCI1 glucocorticoids 22641026 Efficacy yes as part of a two SNP predictive test of FEV1 change, which identified patients with good or poor steroid response (highest or lowest quartile, respectively). P values are for predictive performance of the test. Allele G is associated with increased response to glucocorticoids in people with Asthma as compared to allele A. G Is Associated with increased response to in people with Disease:Asthma A +1450826590 rs1128503 ABCB1 fentanyl 28388599 Dosage no No significant difference in fentanyl infusion dose between genotype groups. Allele G is not associated with dose of fentanyl in children as compared to allele A. G Pediatric Is Not associated with dose of in children A +1450826585 rs1045642 ABCB1 fentanyl 28388599 Dosage yes Pediatric patients with the AA genotype received less fentanyl in an infusion than patients with the AG or GG genotypes. Genotype AA is associated with decreased dose of fentanyl in children as compared to genotypes AG + GG. AA Pediatric Is Associated with decreased dose of in children AG + GG +1450826595 rs1045642 ABCB1 fentanyl 28388599 Metabolism/PK no No significant difference in fentanyl blood levels between genotype groups. Genotype AA is not associated with concentrations of fentanyl in children as compared to genotypes AG + GG. AA Pediatric Is Not associated with concentrations of in children AG + GG +1450826600 rs1045642 ABCB1 fentanyl 28388599 Efficacy no No significant difference in average FLACC score between genotype groups. Genotype AA is not associated with response to fentanyl in children as compared to genotypes AG + GG. AA Pediatric Is Not associated with response to in children AG + GG +769182369 rs2239622 NGF methadone 21358750 Dosage yes Genotype AA is associated with decreased dose of methadone in people with Opioid-Related Disorders as compared to genotypes AG + GG. AA Is Associated with decreased dose of in people with Disease:Opioid-Related Disorders AG + GG +1452683000 rs2032582 ABCB1 tacrolimus 39456782 Metabolism/PK yes """Patients carrying the AA genotype from the ABCB1 2677 group tend to have lower concentrations than those without the AA genotype, as indicated by the lower mean rank (29.67 vs. 8.33) and p-value = 0.005 (Figure 2)."" ""Genotype analysis revealed that the AA genotype of ABCB1 G2677A was significantly associated with Tc levels within the normal range (p = 0.0111; PFDR = 0.0334; 95% C.I. = 0.01–0.08).""" Genotype AA is associated with decreased concentrations of tacrolimus in people with Kidney Transplantation as compared to genotypes AC + CC. AA Is Associated with decreased concentrations of in people with Other:Kidney Transplantation AC + CC +1447676752 rs201279313 SLC25A31 atenolol, hydrochlorothiazide, metoprolol 26729753 Efficacy yes Study in African Americans Genotype TTA/del is associated with increased response to atenolol, hydrochlorothiazide or metoprolol in people with Hypertension as compared to genotype TTA/TTA. TTA/del Is Associated with increased response to or in people with Disease:Hypertension TTA/TTA +1447676810 rs1367094 ZMAT4 atenolol, metoprolol 26729753 Efficacy yes In African Americans.; Association found in atenolol and metoprolol monotherapy, but not validated in a atenolol plus hydrochlorothiazide therapy Allele T is associated with increased response to atenolol or metoprolol in people with Hypertension as compared to allele C. T Is Associated with increased response to or in people with Disease:Hypertension C +1447676797 rs11313667 LRRC15 atenolol, hydrochlorothiazide, metoprolol 26729753 Efficacy yes Study in African Americans Allele del is associated with increased response to atenolol, hydrochlorothiazide or metoprolol in people with Hypertension as compared to allele C. del Is Associated with increased response to or in people with Disease:Hypertension C +1452443320 GSTM1 non-null, GSTM1 null GSTM1 isoniazid 38584604 Metabolism/PK no """None of pharmacokinetic parameters differed; significantly between GSTM1-plus and -null genotypes.""" GSTM1 null is not associated with increased concentrations of isoniazid in people with Tuberculosis as compared to GSTM1 non-null. Is Not associated with increased concentrations of in people with Other:Tuberculosis non-null +1452443369 NAT2 slow acetylator NAT2 isoniazid 38584604 Efficacy no """A trend of association between NAT2 phenotypes and; tSCC was detected, with SA having 80% lower odds of tSCC within; 60 days in comparison to IA (OR = 0.2; 95% CI, 0.03–1.22); however,; statistical significance was not reached (p = 0.069) (Table 5).""" NAT2 slow acetylator is associated with decreased clinical benefit to isoniazid in people with Tuberculosis as compared to NAT2 intermediate acetylator. slow acetylator Is Associated with decreased clinical benefit to in people with Other:Tuberculosis intermediate acetylator +1452443262 NAT2 slow acetylator NAT2 isoniazid 38584604 Metabolism/PK yes """More specifically, INH AUC0–6h and INH Cmax; values were significantly higher, while AcINH AUC0–6h values were; significantly lower in NAT2 slow acetylators. Also, median values of; both AcINH/INH and INA/INH ratios were significantly lower in; the NAT2 SA group."" ""A 1211-bp fragment, which contains the entire coding region of; NAT2 was amplified by PCR"" alleles were assigned using the Greek nomenclature database. ""individuals were; classified as rapid (carrying two rapid NAT2 alleles), intermediate; (one rapid and one slow allele) or slow (two slow alleles) acetylators."" No fast acetylators were observed." NAT2 slow acetylator is associated with increased concentrations of isoniazid in people with Tuberculosis as compared to NAT2 intermediate acetylator. slow acetylator Is Associated with increased concentrations of in people with Other:Tuberculosis intermediate acetylator +1452443280 rs6413432 CYP2E1 isoniazid 38584604 Metabolism/PK yes """Similarly, pharmacokinetic parameters were compared between; patient groups divided according to the presence/absence of the each; CYP2E1 SNPs. Overall, only rs6413432 claimed a statistically significant difference for three INH pharmacokinetic parameters:; INH AUC0–6h, values were significantly higher, while median values; of both AcINH/INH MR and INA/INH MR were significantly lower; in patients with rs6413432 (Table 4).""" Allele A is associated with increased concentrations of isoniazid in people with Tuberculosis as compared to allele T (assigned as intermediate acetylator phenotype) . A Is Associated with increased concentrations of in people with Other:Tuberculosis T intermediate acetylator +1451893960 rs28379954 NFIB clozapine 36152308 Metabolism/PK not stated significance is only given for combination of both CYP1A rs2472297 C>T and NFIB rs28379954 T>C genotypes Genotype CT is associated with decreased dose-adjusted trough concentrations of clozapine in people with Tobacco Use Disorder as compared to genotype TT. CT Is Associated with decreased dose-adjusted trough concentrations of in people with Other:Tobacco Use Disorder TT +1451893991 rs2472297 CYP1A1 clozapine 36152308 Metabolism/PK not stated significance is only given for combination of both CYP1A rs2472297 C>T and NFIB rs28379954 T>C genotypes Genotype CT is associated with decreased dose-adjusted trough concentrations of clozapine in people with Tobacco Use Disorder as compared to genotype CC. CT Is Associated with decreased dose-adjusted trough concentrations of in people with Other:Tobacco Use Disorder CC +1451894000 rs2472297 CYP1A1 clozapine 36152308 Metabolism/PK not stated significance is only given for combination of both CYP1A rs2472297 C>T and NFIB rs28379954 T>C genotypes Genotype CT is associated with decreased dose-adjusted trough concentrations of clozapine as compared to genotype CC. CT Is Associated with decreased dose-adjusted trough concentrations of CC +1451893986 rs28379954 NFIB clozapine 36152308 Metabolism/PK not stated significance is only given for combination of both CYP1A rs2472297 C>T and NFIB rs28379954 T>C genotypes Genotype CT is associated with decreased dose-adjusted trough concentrations of clozapine as compared to genotype TT. CT Is Associated with decreased dose-adjusted trough concentrations of TT +1450943400 rs2306168 SLCO2B1 atenolol 22574741 Metabolism/PK no both *1/*1 and *3/*3 had similar Cmax and AUC and both were reduced significantly by apple juice. Genotype TT is not associated with increased exposure to atenolol in healthy individuals as compared to genotype CC. TT Is Not associated with increased exposure to in healthy individuals CC +982043099 rs4149015 SLCO1B1 pravastatin 16722833 Metabolism/PK yes 2 patients with the AG genotype (who also had rs4149056 genotype TC) had significantly lower plasma Cmax and AUC. This variant was described as -11187G>A. Genotype AG is associated with increased metabolism of pravastatin in children with Hyperlipoproteinemia Type II as compared to genotype GG. AG Pediatric Is Associated with increased metabolism of in children with Disease:Hyperlipoproteinemia Type II GG +982043146 rs4149056 SLCO1B1 pravastatin 16722833 Metabolism/PK no No significant association was found with this SNP, though there was a trend for lower plasma concentrations in patients with the CT genotype. This variant was described as 521T>C. Genotype CT is not associated with increased metabolism of pravastatin in children with Hyperlipoproteinemia Type II as compared to genotype TT. CT Pediatric Is Not associated with increased metabolism of in children with Disease:Hyperlipoproteinemia Type II TT +982043138 rs4149015 SLCO1B1 pravastatin 16722833 Metabolism/PK yes 2 patients with the AG genotype (who also had rs4149056 genotype TC) had significantly higher increases in HDL-cholesterol after treatment. Genotypes were not associated with lipid-lowering effect. This variant was described as -11187G>A. Genotype AG is associated with increased response to pravastatin in children with Hyperlipoproteinemia Type II as compared to genotype GG. AG Pediatric Is Associated with increased response to in children with Disease:Hyperlipoproteinemia Type II GG +982043181 rs4149056 SLCO1B1 pravastatin 16722833 Efficacy yes Patients with the CT genotype had greater increases in HDL cholesterol but smaller decreases in total cholesterol and LDL cholesterol. This variant was described as 521T>C. Genotype CT is associated with increased response to pravastatin in children with Transplantation as compared to genotype TT. CT Pediatric Is Associated with increased response to in children with Disease:Transplantation TT +982043158 rs4149056 SLCO1B1 pravastatin 16722833 Metabolism/PK yes Patients with the CT genotype had significantly lower plasma Cmax, AUC and drug half-life. This variant was described as 521T>C. Genotype CT is associated with increased metabolism of pravastatin in children with Transplantation as compared to genotype TT. CT Pediatric Is Associated with increased metabolism of in children with Disease:Transplantation TT +982043213 rs2032582 ABCB1 pravastatin 16722833 Metabolism/PK no No significant association was found between changes in cholesterol levels or triglycerides and this SNP. Allele C is not associated with response to pravastatin in children with Hyperlipoproteinemia Type II as compared to allele A. C Pediatric Is Not associated with response to in children with Disease:Hyperlipoproteinemia Type II A +982043191 rs2032582 ABCB1 pravastatin 16722833 Metabolism/PK no No significant association was found between PK parameters and this SNP. Allele C is not associated with metabolism of pravastatin in children with Hyperlipoproteinemia Type II as compared to allele T. C Pediatric Is Not associated with metabolism of in children with Disease:Hyperlipoproteinemia Type II T +982043203 rs1045642 ABCB1 pravastatin 16722833 Metabolism/PK no No significant association was found between PK parameters and this SNP. Allele G is not associated with metabolism of pravastatin in children with Hyperlipoproteinemia Type II as compared to allele A. G Pediatric Is Not associated with metabolism of in children with Disease:Hyperlipoproteinemia Type II A +982043225 rs1045642 ABCB1 pravastatin 16722833 Metabolism/PK no No significant association was found between changes in cholesterol levels or triglycerides and this SNP. Allele G is not associated with response to pravastatin in children with Hyperlipoproteinemia Type II as compared to allele A. G Pediatric Is Not associated with response to in children with Disease:Hyperlipoproteinemia Type II A +1451444938 rs1800544 ADRA2A dexmedetomidine 33915198 Dosage no Allele C is not associated with dose of dexmedetomidine in men as compared to allele G. C Is Not associated with dose of in men G +1451445180 rs553668 ADRA2A dexmedetomidine 33915198 Dosage no Allele G is not associated with dose of dexmedetomidine in men as compared to allele A. G Is Not associated with dose of in men A +1451445120 rs2484516 ADRA2A dexmedetomidine 33915198 Dosage no Genotype CC is not associated with dose of dexmedetomidine in men as compared to genotype CG. CC Is Not associated with dose of in men CG +1451445125 rs3750625 ADRA2A dexmedetomidine 33915198 Dosage no Allele A is not associated with dose of dexmedetomidine in men as compared to allele C. A Is Not associated with dose of in men C +1451445141 rs1800545 ADRA2A dexmedetomidine 33915198 Dosage no Allele A is not associated with dose of dexmedetomidine in men as compared to allele G. A Is Not associated with dose of in men G +982010231 rs9344 CCND1 lapatinib 21989330 Efficacy no The genotype association was not significant in univariate analysis but when looking at A carriers those on capecitabine plus lapatinib did significantly better than those on capecitabine alone whereas for the G homozygotes the outcomes were similar for both drug combinations. Genotypes CA/CA + CA/CG are associated with increased response to lapatinib in women with Breast Neoplasms as compared to genotype CG/CG. CA/CA + CA/CG Are Associated with increased response to in women with Disease:Breast Neoplasms CG/CG +1453070000 CYP2D6*4, CYP2D6*10 CYP2D6 valproic acid 40055599 Metabolism/PK no """No significant correlation was observed between VPA plasma concentrations and genotypes of SULT1A1 (p = 0.522), CYP2C192 (p = 0.288), CYP2D64 (p = 0.895), or CYP2D6*10 (p = 0.067)."" There was one individual with *10 who also carried *4 and had ""Slightly high"" TDM concentrations. One other individual was heterozygous *4 (also CYP2C19*2) and had toxic TDM concentrations." CYP2D6 *4 + *10 is not associated with increased concentrations of valproic acid in people with Autism or Intellectual Disability. *4 + *10 Pediatric Is Not associated with increased concentrations of in people with Other:Autism, Other:Intellectual Disability or +1453069940 CYP2C19*2 CYP2C19 valproic acid 40055599 Metabolism/PK no """No significant correlation was observed between VPA plasma concentrations and genotypes of SULT1A1 (p = 0.522), CYP2C192 (p = 0.288), CYP2D64 (p = 0.895), or CYP2D6*10 (p = 0.067)."" ""Sample numbers (2 and 8) have heterozygous abnormal CYP 2C19*2; sample number (2) has a therapeutic VPA level, but sample number (8) has a toxic level of VPA. """ CYP2C19 *2 is not associated with increased concentrations of valproic acid in people with Autism or Intellectual Disability. *2 Pediatric Is Not associated with increased concentrations of in people with Other:Autism, Other:Intellectual Disability or +1450812426 rs1799971 OPRM1 ethanol 19240053 Dosage no There was no significant difference in alcohol intake, craving or latency to access alcohol between the genotype groups in alcoholic subjects subjected to stress. Genotype AG is not associated with dose of ethanol in people with Alcoholism and Stress as compared to genotype AA. AG Is Not associated with dose of in people with Other:Alcohol abuse, Other:Stress and AA +1452428800 HLA-DRB1*04:01, HLA-DRB1*04:04, HLA-DRB1*04:05, HLA-DRB1*04:10, HLA-DRB1*10:01 HLA-DRB1 abatacept 38514707 Efficacy yes """Intriguingly, patients with Val11 of HLA-DRB1 SE exhibited a more favorable response to abatacept (OR = 6.46 [1.65–43.17], P = 5.4 × 10–3)"" ""SE with Val11 (*04:01, *04:04, *04:05, *04:08, *04:10, *10:01)""" HLA-DRB1 *04:01 + *04:04 + *04:05 + *04:10 + *10:01 is associated with increased clinical benefit to abatacept in people with Arthritis, Rheumatoid. *04:01 + *04:04 + *04:05 + *04:10 + *10:01 Is Associated with increased clinical benefit to in people with Other:Rheumatoid arthritis +1452110320 rs8192552 MTNR1B vincristine 35884569 Metabolism/PK yes in a subset of study of vincristine-induced peripheral neuropathy with PK measurements. Genotype AG is associated with increased exposure to vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma, Hodgkin Disease, Rhabdomyosarcoma, Medulloblastoma or Glioma as compared to genotype GG. AG Pediatric Is Associated with increased exposure to in children with Other:Acute lymphoblastic leukemia, Other:Hodgkin Disease, Other:Rhabdomyosarcoma, Other:Medulloblastoma, Other:Glioma or GG +1452110364 rs6519270 SNU13 vincristine 35884569 Metabolism/PK yes in a subset of study of vincristine-induced peripheral neuropathy with PK measurements. Association is reported for rs6519270 A > C however dbSNP and gnoMAD have this as an A>G variant. Allele G is associated with increased concentrations of vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma, Hodgkin Disease, Rhabdomyosarcoma, Medulloblastoma or Glioma as compared to allele A. G Pediatric Is Associated with increased concentrations of in children with Other:Acute lymphoblastic leukemia, Other:Hodgkin Disease, Other:Rhabdomyosarcoma, Other:Medulloblastoma, Other:Glioma or A +1452110218 rs4548 RAB7A vincristine 35884569 Metabolism/PK yes in a subset of study of vincristine-induced peripheral neuropathy with PK measurements. Genotype CT is associated with increased exposure to vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma, Hodgkin Disease, Rhabdomyosarcoma, Medulloblastoma or Glioma as compared to genotype CC. CT Pediatric Is Associated with increased exposure to in children with Other:Acute lymphoblastic leukemia, Other:Hodgkin Disease, Other:Rhabdomyosarcoma, Other:Medulloblastoma, Other:Glioma or CC +1449260681 rs9923231 VKORC1 warfarin 27617219 Dosage yes Allele T is associated with decreased dose of warfarin as compared to allele C. T Is Associated with decreased dose of C +1449260063 rs9934438 VKORC1 warfarin 27617219 Dosage yes Allele A is associated with decreased dose of warfarin as compared to allele G. A Is Associated with decreased dose of G +1449258301 rs1057910 CYP2C9 warfarin 27617219 Dosage yes Allele C is associated with decreased dose of warfarin as compared to allele A. C Is Associated with decreased dose of A +1449259246 rs2108622 CYP4F2 warfarin 27617219 Dosage no Allele T is associated with increased dose of warfarin as compared to allele C. T Is Associated with increased dose of C +1451214031 UGT1A1*1, UGT1A1*28 UGT1A1 FOLFIRI, irinotecan 25285015 Efficacy no Response rates were complete and partial response (CR + PR), or complete and partial response and stable disease (CR + PR + SD). No significant differences between any of the genotypes ((TA)6/(TA)6, (TA)6/(TA)7, (TA)7/(TA)7) were seen for either type of response rate. UGT1A1 *28 is not associated with increased response to FOLFIRI or irinotecan in people with Colorectal Neoplasms as compared to UGT1A1 *1. *28 Is Not associated with increased response to or in people with Disease:Colorectal Neoplasms *1 +1185235308 UGT1A1*1, UGT1A1*6 UGT1A1 irinotecan 25285015 Efficacy no Response rates were complete and partial response (CR + PR), or complete and partial response and stable disease (CR + PR + SD). No significant differences between any of the genotypes (*1/*1, *1/*6, *6/*6; rs4148323 GG, AG, AA) were seen for either type of response rate. UGT1A1 *6 is not associated with response to irinotecan in people with Colorectal Neoplasms as compared to UGT1A1 *1. *6 Is Not associated with response to in people with Disease:Colorectal Neoplasms *1 +1451133400 rs9909004 PRKCA """Ace Inhibitors, Plain"", ""Angiotensin II Antagonists"", ""Beta Blocking Agents""" 31728800 Efficacy no The authors note that this variant was in strong LD with rs9303504. Allele C is not associated with response to Ace Inhibitors, Plain, Angiotensin II Antagonists or Beta Blocking Agents in people with Heart Failure as compared to allele T. C Is Not associated with response to or in people with Other:Heart Failure T +1451133423 rs9303504 PRKCA """Ace Inhibitors, Plain"", ""Angiotensin II Antagonists"", ""Beta Blocking Agents""" 31728800 Efficacy no The authors note that this variant was in strong LD with rs9909004. Allele G is not associated with response to Ace Inhibitors, Plain, Angiotensin II Antagonists or Beta Blocking Agents in people with Heart Failure as compared to allele C. G Is Not associated with response to or in people with Other:Heart Failure C +1448261184 CYP2C19*2, CYP2C19*3, CYP2C19*17 CYP2C19 clopidogrel 26445541 Dosage not stated This study provided a table of dose adjustments for clopidogrel, based on CYP2C19 genotype and interacting drugs metabolized by CYP2C19. It was based on a clopidogrel dose of 75 mg. CYP2C19 *2 + *3 + *17 are associated with dose of clopidogrel. *2 + *3 + *17 Are Associated with dose of +1451974780 rs1139130 METTL3 Drugs For Treatment Of Tuberculosis 36569923 Efficacy yes drug regimen is not specified. Genotype GG is associated with increased resistance to Drugs For Treatment Of Tuberculosis in people with Tuberculosis as compared to genotypes AA + AG. GG Is Associated with increased resistance to in people with Other:Tuberculosis AA + AG +1444608497 CYP2C19*1, CYP2C19*2, CYP2C19*3 CYP2C19 valproic acid 25372290 Metabolism/PK no Clearance here refers to apparent oral clearance as assayed by serum concentration of valproic acid (VPA) (micrograms/ml). The authors used NONEM to assess serum concentration of VPA. CYP2C19 *2 + *3 are not associated with clearance of valproic acid in people with Epilepsy as compared to CYP2C19 *1. *2 + *3 Pediatric Are Not associated with clearance of in people with Disease:Epilepsy *1 +1444608478 CYP2C9*1, CYP2C9*3 CYP2C9 valproic acid 25372290 Metabolism/PK no Clearance here refers to apparent oral clearance as assayed by serum concentration of valproic acid (VPA) (micrograms/ml). The authors used NONEM to assess serum concentration of VPA. CYP2C9 *3 is not associated with clearance of valproic acid in people with Epilepsy as compared to CYP2C9 *1. *3 Pediatric Is Not associated with clearance of in people with Disease:Epilepsy *1 +1183700228 rs2108622 CYP4F2 warfarin 19297519 Dosage yes TT > CT > CC. Allele T is associated with increased dose of warfarin as compared to allele C. T Is Associated with increased dose of C +1183700215 rs2108622 CYP4F2 Vitamin K and analogues 19297519 Metabolism/PK not stated Human Liver Microsomes carrying T had lower vitamin K1 oxidation as well as a decreased steady-state hepatic concentration of Vitamin K1 oxidase. HLM-CC: generated metabolite at 0.85 pmol/min/mg microsomal protein. CT: 0.44 pmol/min/mg; TT: 0.21 pmol/min/mg.; Amount of CYP4F2: CC:11.3 pmol/mg microsomal protein; CT:7.2 pmol/mg; TT: 2.5 pmol/mg. Allele T is associated with decreased metabolism of Vitamin K as compared to allele C. T Is Associated with decreased metabolism of C +1183700748 CYP2C9*1, CYP2C9*3 CYP2C9 warfarin 20375999 Dosage yes Each CYP2C9*3 allele resulted in a 28% (23-32%) decrease in therapeutic dose on Day 4 or 5 of therapy. CYP2C9 *3 is associated with decreased dose of warfarin as compared to CYP2C9 *1. *3 Is Associated with decreased dose of *1 +1183700730 CYP2C9*1, CYP2C9*2 CYP2C9 warfarin 20375999 Dosage yes Each CYP2C9*2 allele resulted in a 15% (11-19%) decrease in therapeutic dose on Day 4 or 5 of therapy. CYP2C9 *2 is associated with decreased dose of warfarin as compared to CYP2C9 *1. *2 Is Associated with decreased dose of *1 +1183700756 rs9923231 VKORC1 warfarin 20375999 Dosage yes Each T allele resulted in a 20% (17-23%) decrease in therapeutic dose on Day 4 or 5 of therapy. Allele T is associated with decreased dose of warfarin as compared to allele C. T Is Associated with decreased dose of C +1184471365 rs28399499 CYP2B6 efavirenz 19659438 Metabolism/PK yes "As determined by significantly higher efavirenz plasma levels. This SNP was only significant in composite analysis with rs3745274: extensive metabolizers were defined as having no variant alleles at positions 516 (allele G) or (983 allele T), intermediate metabolizers had a single variant at one of the positions but not both, slow metabolizers (described as ""poor"" here) had 2 variant alleles (either genotype 516TT, 983CC, or 516 GT with 983 TC). Significant after Bonferroni correction for multiple comparisons." Allele C (assigned as poor metabolizer phenotype) is associated with decreased metabolism of efavirenz in people with HIV Infections as compared to allele T (assigned as normal metabolizer phenotype) . C poor metabolizer Is Associated with decreased metabolism of in people with Disease:HIV infectious disease T normal metabolizer +1184471369 rs3745274 CYP2B6 efavirenz 19659438 Metabolism/PK yes "As determined by significantly higher efavirenz plasma levels. Composite analysis with rs3745274: extensive metabolizers were defined as having no variant alleles at positions 516 (allele G) or (983 allele T), intermediate metabolizers had a single variant at one of the positions but not both, slow metabolizers (described as ""poor"" here) had 2 variant alleles (either genotype 516TT, 983CC, or 516 GT with 983 TC). Significant after Bonferroni correction for multiple comparisons." Allele T (assigned as poor metabolizer phenotype) is associated with decreased metabolism of efavirenz in people with HIV Infections as compared to allele G (assigned as normal metabolizer phenotype) . T poor metabolizer Is Associated with decreased metabolism of in people with Disease:HIV infectious disease G normal metabolizer +1184471413 rs36118214 CYP2B6 efavirenz 19659438 Metabolism/PK yes As determined by significantly different efavirenz plasma levels in patients with genotypes in the order AAT) (r squared = 0.242). Genotype GG is associated with decreased metabolism of efavirenz in people with HIV Infections as compared to genotype AA. GG Is Associated with decreased metabolism of in people with Disease:HIV infectious disease AA +1184471312 rs3745274 CYP2B6 efavirenz 19659438 Metabolism/PK yes As determined by significantly higher efavirenz plasma levels. Significant after Bonferroni correction for multiple comparisons. Genotype TT (assigned as poor metabolizer phenotype) is associated with decreased metabolism of efavirenz in people with HIV Infections as compared to genotype GG (assigned as normal metabolizer phenotype) . TT poor metabolizer Is Associated with decreased metabolism of in people with Disease:HIV infectious disease GG normal metabolizer +827704966 rs28399433 CYP2A6 efavirenz 19659438 Metabolism/PK no As determined by higher plasma levels. Although this association was not statistically significant after Bonferroni correction for multiple comparisons. This polymorphism was described as being in the cyp2a6 promoter region. Genotype AC is associated with decreased metabolism of efavirenz in people with HIV Infections as compared to genotype AA. AC Is Associated with decreased metabolism of in people with Disease:HIV infectious disease AA +1444930545 CYP2C19*17 CYP2C19 voriconazole 26138512 Efficacy not stated Case report. A 26-year-old woman with an acute mixed lymphoid and myeloid leukemia met criteria for probable pulmonary aspergillosis and was treated with voriconazole. The patient showed low serum concentrations of the drug, which remained low even after dose increase, and a lack of response. She was found to have the CYP2C19 *17/*17 genotype. Once she was switched to caspofungin, the fungal infection was controlled. The authors note that co-medications and disease-induced modulation of the CYP2C19 and CYP3A4 activities cannot be excluded as explanations for the low concentrations of voriconazole. CYP2C19 *17/*17 is associated with decreased response to voriconazole in women with Mycoses. *17/*17 Is Associated with decreased response to in women with Disease:Mycoses +1448615000 rs1045642 ABCB1 anastrozole 27747906 Metabolism/PK no Alleles have been complemented to the positive strand. Genotype GG is not associated with concentrations of anastrozole in women with Breast Neoplasms as compared to genotypes AA + AG. GG Is Not associated with concentrations of in women with Disease:Breast Neoplasms AA + AG +1448614987 rs2032582 ABCB1 anastrozole 27747906 Metabolism/PK yes Alleles have been complemented to the positive strand. Genotype AA is associated with increased concentrations of anastrozole in women with Breast Neoplasms as compared to genotypes AC + CC. AA Is Associated with increased concentrations of in women with Disease:Breast Neoplasms AC + CC +1448614994 rs1128503 ABCB1 anastrozole 27747906 Metabolism/PK no Alleles have been complemented to the positive strand. Genotype GG is not associated with concentrations of anastrozole in women with Breast Neoplasms as compared to genotypes AA + AG. GG Is Not associated with concentrations of in women with Disease:Breast Neoplasms AA + AG +1452798922 rs2231142 ABCG2 imatinib 39714624 Efficacy yes "Alleles complemented. There were no TT homozygotes. ""However, a statistically significant difference was noted between the two patient groups regarding the distribution of different genotypes of the ABCG2 C421A polymorphism with predominance of the CA genotype in responder patients (p = 0.0395) (Fig. 2b).; Assessment of molecular response to imatinib based on the BCR-ABL1 transcript level at 12 months. Responders (n = 26); Non-responders (n = 24). """ Genotype GT is associated with increased clinical benefit to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype GG. GT Is Associated with increased clinical benefit to in people with Other:Chronic myelogenous leukemia, BCR-ABL1 positive GG +1452798983 rs11572080 CYP2C8 imatinib 39714624 Efficacy no "Alleles complemented. There were no TT homozygotes. ""Assessment of molecular response to imatinib based on the BCR-ABL1 transcript level at 12 months. Responders (n = 26); Non-responders (n = 24). "" ""No statistically significant difference was found between the frequency of GG and GA genotypes of CYP2C8*3 in the two groups (p = 0.1902). """ Genotype CT is not associated with decreased clinical benefit to imatinib in people with Leukemia, Myelogenous, Chronic, BCR-ABL Positive as compared to genotype CC. CT Is Not associated with decreased clinical benefit to in people with Other:Chronic myelogenous leukemia, BCR-ABL1 positive CC +1452273340 rs145837941 CALCA fentanyl 37829781 Dosage yes "Mapped CGRP 4218T/C to rs145837941 in the CALCA gene using PMID:23237777. Alleles complemented. Was significant for all the timepoints (0-6, 6-12, 12-24 and total).""In the paired comparison of C/C versus T/C and C/C versus T/T, the C/C group had a significantly higher requirement of mean total postoperative fentanyl in the first 24 h than T/T (P < 0.001) and T/C (P < 0.001). """ Genotype GG is associated with increased dose of fentanyl in people with Pain, Postoperative as compared to genotypes AA + AG. GG Is Associated with increased dose of in people with Other:Pain, Postoperative AA + AG +1452040207 rs6311 HTR2A citalopram 16642436 Efficacy no Remitters achieved a QIDS-C score of <= 5 at the last treatment visit; probable remitters achieved a score of 6 or 7. Non- remitters had a QIDS-C16 score of >= 10 at the last visit. Those with a final QIDS-C16 score in the borderline range of 8 and 9 were excluded from analysis. Responders achieved at least a 50% reduction in base- line QIDS-C16 at the last treatment visit; probable respond- ers achieved a 45%–50% reduction. Nonresponders did not achieve even a 40% reduction in baseline QIDS-C score at the last treatment visit. Those with a reduction in QIDS-C16 in the borderline range of 40%–45% were excluded from analysis. Allele T is not associated with response to citalopram in people with Depressive Disorder, Major as compared to allele C. T Is Not associated with response to in people with Other:Major Depressive Disorder C +1452040215 rs6313 HTR2A citalopram 16642436 Efficacy no Remitters achieved a QIDS-C score of <= 5 at the last treatment visit; probable remitters achieved a score of 6 or 7. Non- remitters had a QIDS-C16 score of >= 10 at the last visit. Those with a final QIDS-C16 score in the borderline range of 8 and 9 were excluded from analysis. Responders achieved at least a 50% reduction in base- line QIDS-C16 at the last treatment visit; probable respond- ers achieved a 45%–50% reduction. Nonresponders did not achieve even a 40% reduction in baseline QIDS-C score at the last treatment visit. Those with a reduction in QIDS-C16 in the borderline range of 40%–45% were excluded from analysis. Allele A is not associated with response to citalopram in people with Depressive Disorder, Major as compared to allele G. A Is Not associated with response to in people with Other:Major Depressive Disorder G +1448636182 rs28399499 CYP2B6 efavirenz 28692529 Metabolism/PK not stated This is for CYP2B6 983T>C. Genotypes CC + CT is associated with decreased clearance of efavirenz in people with HIV Infections as compared to genotype TT. CC + CT Is Associated with decreased clearance of in people with Disease:HIV infectious disease TT +1448636173 rs3745274 CYP2B6 efavirenz 28692529 Metabolism/PK not stated This is for CYP2B6 516G>T. Genotypes GT + TT is associated with decreased clearance of efavirenz in people with HIV Infections as compared to genotype GG. GT + TT Is Associated with decreased clearance of in people with Disease:HIV infectious disease GG +1447682410 rs1127354 ITPA mercaptopurine 26405151 Dosage no No significant difference in median cumulative dose was seen between the genotypes at 2 months (p=0.55), 4 months (p=0.81) or 6 months (p=0.78) of the mercaptopurine maintenance phase. Genotype CC is not associated with dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes AA + AC. CC Pediatric Is Not associated with dose of in children with Disease:Acute lymphoblastic leukemia AA + AC +1447682392 rs116855232 NUDT15 mercaptopurine 26405151 Dosage yes Children with the CT or TT genotypes received 80.3%, 61.5% and 61.1% of the median cumulative dose of those with the CC genotype at 2, 4 and 6 months of the mercaptopurine maintenance phase, respectively. Additionally, patients with the CT or TT genotype were given a median dose of 28 mg/m2/day, 56% of the standard initial dose. Genotypes CT + TT is associated with decreased dose of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CC. CT + TT Pediatric Is Associated with decreased dose of in children with Disease:Acute lymphoblastic leukemia CC +981851641 NAT2*4, NAT2*6, NAT2*7, NAT2*14, NAT2*16, NAT2*19 NAT2 isoniazid 23150149 Dosage, Metabolism/PK yes "Originally annotated as ""compared to NAT2 *19 + *14A + *5D + *6B + *7A (assigned as slow acetylator phenotype)"". Patients were given an isoniazid dose based on NAT2 acetylator status or a standard dose. Slow acetylators (carriers of two variant alleles *19, *14, *5, *6, or *7) who had their dose adjusted had a reduced incidence of liver injury as compared to those who received a standard dose, and fast acetylators (*4/*4, either given standard dose or 1.5x standard dose) who had their dose adjusted had a reduced incidence of early treatment failure (at 8 weeks) as compared to those who received a standard dose.; The arylamine N-acetyltransferases (NATs) database was transitioned into the PharmVar database in March 2024. the alleles included in this annotation are mapped as following: NAT2*14A under the *14 core allele; NAT2*5D under the *16 core allele; NAT2*6B under the *6 core allele; NAT2*7A under the *7 core allele." NAT2 *4/*4 (assigned as rapid acetylator phenotype) is associated with increased dose of isoniazid in people with Tuberculosis as compared to NAT2 *19 + *14 + *16 + *6 + *7 (assigned as slow acetylator phenotype) . *4/*4 rapid acetylator Is Associated with increased dose of in people with Disease:Tuberculosis *19 + *14 + *16 + *6 + *7 slow acetylator +1452840740 rs41423247 NR3C1 antiepileptics 39920787 Efficacy yes "From table 4. ""The frequency of the C allele was significantly higher in the good response group than in the poor response group (P < 0.001, Table 4). ""In genetic model analysis, the dominant model of rs41423247 showed a difference between the good response group and the poor response group (P < 0.001, Table 5)"" ""In our study, we found a correlation between NR3C1 and drug response to ASM treatment in Chinese pediatric epilepsy patients, mainly in the form of CG genotype, and C allele is associated with a good response to the drug, suggesting that the NR3C1 rs41423247 polymorphism may affect the therapeutic effect of ASM in epilepsy patients."" Drugs not specified." Genotype GG is associated with decreased clinical benefit to antiepileptics in children with Epilepsy as compared to genotypes CC + CG. GG Pediatric Is Associated with decreased clinical benefit to in children with Other:Epilepsy CC + CG +1183699285 CYP2C9*1, CYP2C9*3 CYP2C9 warfarin 17387222 Dosage yes *3 was associated with 38.1 %(95% CI 29.3 -45.7%) reduction in therapeutic dose (defined as the dose that gave an INR in the target therapeutic range after 7 consecutive days) per copy. CYP2C9 *3 is associated with decreased dose of warfarin in people with total knee or hip arthroplasty as compared to CYP2C9 *1. *3 Is Associated with decreased dose of in people with Other:total knee or hip arthroplasty *1 +1183699310 CYP2C9*1, CYP2C9*2 CYP2C9 warfarin 17387222 Dosage yes *2 was associated with 17.4 %(95% CI 8.3-25.6%) reduction in therapeutic dose (defined as the dose that gave an INR in the target therapeutic range after 7 consecutive days) per copy. CYP2C9 *2 is associated with decreased dose of warfarin in people with total knee or hip arthroplasty as compared to CYP2C9 *1. *2 Is Associated with decreased dose of in people with Other:total knee or hip arthroplasty *1 +1450979180 rs9923231 VKORC1 warfarin 17387222 Dosage yes """Haplotype A"" (defined by rs9923231A and elsewhere defined to = H1 and H2) was associated with 10.7%(95% CI 2.0 - 18.6%) reduction in therapeutic dose (defined as the dose that gave an INR in the target therapeutic range after 7 consecutive days) per copy as compared to ""Haplotype B"" (defined as H7,H8,H9 elsewhere). There were 4 patients missing data for rs9923231, and for these cases haplotype was based on rs8050894 on the basis of high pairwise linkage disequilibrium." Allele A is associated with decreased dose of warfarin in people with total knee or hip arthroplasty as compared to allele G. A Is Associated with decreased dose of in people with Other:total knee or hip arthroplasty G +1183699320 rs1057910 CYP2C9 warfarin 17387222 Dosage yes C (*3) was associated with 38.1 %(95% CI 29.3 -45.7%) reduction in therapeutic dose (defined as the dose that gave an INR in the target therapeutic range after 7 consecutive days) per copy. Allele C is associated with decreased dose of warfarin in people with total knee or hip arthroplasty as compared to allele A. C Is Associated with decreased dose of in people with Other:total knee or hip arthroplasty A +1183699325 rs1799853 CYP2C9 warfarin 17387222 Dosage yes T (*2) was associated with 17.4 %(95% CI 8.3-25.6%) reduction in therapeutic dose (defined as the dose that gave an INR in the target therapeutic range after 7 consecutive days) per copy. Allele T is associated with decreased dose of warfarin in people with total knee or hip arthroplasty as compared to allele C. T Is Associated with decreased dose of in people with Other:total knee or hip arthroplasty C +1450933135 rs4680 COMT opioids 30704436 Efficacy yes Patients with the AA or AG genotypes reached the lowest pain intensity faster than those with the GG genotype. Genotypes AA + AG are associated with increased response to opioids in children as compared to genotype GG. AA + AG Pediatric Are Associated with increased response to in children GG +1450933130 rs4680 COMT opioids 30704436 Dosage yes Patients with the AG genotype had reduced consumption of opioids compared to those with the GG genotype. Genotype AG is associated with decreased dose of opioids in children as compared to genotype GG. AG Pediatric Is Associated with decreased dose of in children GG +1451092660 CYP2C9*1, CYP2C9*2, CYP2C9*3 CYP2C9 meloxicam 29024493 Metabolism/PK yes The population PK model predicted CL for meloxicam was decreased by 15%, 29%, 40%, 55%, and 80% in subjects with CYP2C9*1/*2, *2/*2, *1/*3, *2/*3, and *3/*3 genotypes, respectively, compared with that in subjects with the CYP2C9*1/*1 genotype. The effect of *2 on metabolism is moderate compared to *3. CYP2C9 *3 + *2 are associated with decreased metabolism of meloxicam in healthy individuals as compared to CYP2C9 *1/*1. *3 + *2 Are Associated with decreased metabolism of in healthy individuals *1/*1 +1444828207 CYP2C19*2 CYP2C19 voriconazole 21615537 Metabolism/PK not stated Case report: Patient taking normal doses of voriconazole and trough concentration elevated (6.1-6.7 mcg/ml) resulting in discontinuation of drug. CYP2C19 *2/*2 (assigned as poor metabolizer phenotype) is associated with increased concentrations of voriconazole. *2/*2 poor metabolizer Is Associated with increased concentrations of +1449310621 rs35305980 OR2B11 axitinib 29682213 Metabolism/PK yes The authors develop a prediction model and calculated area under the concentration curve (AUC) using 6 SNPs (rs17868323, rs3832043, rs2231142, rs2032582, rs1045642, rs35305980) was compared with actual AUC in 16 patients prospectively which significantly correlated with the objective response rate (P = 0.0002), hand-foot syndrome, P = 0.0055 and hypothyroidism, P = 0.0381, and correlated with actual AUC (P < 0.0001) - the validation study, calculated AUC prior to axitinib treatment precisely predicted actual AUC after axitinib treatment (P = 0.0066). Allele A is associated with concentrations of axitinib in people with Carcinoma, Renal Cell as compared to allele del. A Is Associated with concentrations of in people with Disease:Renal Cell Carcinoma del +1449310590 rs3832043 UGT1A10, UGT1A8, UGT1A9 axitinib 29682213 Metabolism/PK yes The authors develop a prediction model and calculated area under the concentration curve (AUC) using 6 SNPs (rs17868323, rs3832043, rs2231142, rs2032582, rs1045642, rs35305980) was compared with actual AUC in 16 patients prospectively which significantly correlated with the objective response rate (P = 0.0002), hand-foot syndrome, P = 0.0055 and hypothyroidism, P = 0.0381, and correlated with actual AUC (P < 0.0001) - the validation study, calculated AUC prior to axitinib treatment precisely predicted actual AUC after axitinib treatment (P = 0.0066). Allele del is associated with concentrations of axitinib in people with Carcinoma, Renal Cell as compared to allele T. del Is Associated with concentrations of in people with Disease:Renal Cell Carcinoma T +1449310581 rs17868323 UGT1A7 axitinib 29682213 Metabolism/PK yes The authors develop a prediction model and calculated area under the concentration curve (AUC) using 6 SNPs (rs17868323, rs3832043, rs2231142, rs2032582, rs1045642, rs35305980) was compared with actual AUC in 16 patients prospectively which significantly correlated with the objective response rate (P = 0.0002), hand-foot syndrome, P = 0.0055 and hypothyroidism, P = 0.0381, and correlated with actual AUC (P < 0.0001) - the validation study, calculated AUC prior to axitinib treatment precisely predicted actual AUC after axitinib treatment (P = 0.0066). Allele G is associated with concentrations of axitinib in people with Carcinoma, Renal Cell as compared to allele T. G Is Associated with concentrations of in people with Disease:Renal Cell Carcinoma T +1449310608 rs1045642 ABCB1 axitinib 29682213 Metabolism/PK yes The authors develop a prediction model and calculated area under the concentration curve (AUC) using 6 SNPs (rs17868323, rs3832043, rs2231142, rs2032582, rs1045642, rs35305980) was compared with actual AUC in 16 patients prospectively which significantly correlated with the objective response rate (P = 0.0002), hand-foot syndrome, P = 0.0055 and hypothyroidism, P = 0.0381, and correlated with actual AUC (P < 0.0001) - the validation study, calculated AUC prior to axitinib treatment precisely predicted actual AUC after axitinib treatment (P = 0.0066). Allele A is associated with concentrations of axitinib in people with Carcinoma, Renal Cell as compared to allele G. A Is Associated with concentrations of in people with Disease:Renal Cell Carcinoma G +1449310596 rs2231142 ABCG2 axitinib 29682213 Metabolism/PK yes The authors develop a prediction model and calculated area under the concentration curve (AUC) using 6 SNPs (rs17868323, rs3832043, rs2231142, rs2032582, rs1045642, rs35305980) was compared with actual AUC in 16 patients prospectively which significantly correlated with the objective response rate (P = 0.0002), hand-foot syndrome, P = 0.0055 and hypothyroidism, P = 0.0381, and correlated with actual AUC (P < 0.0001) - the validation study, calculated AUC prior to axitinib treatment precisely predicted actual AUC after axitinib treatment (P = 0.0066). Allele T is associated with concentrations of axitinib in people with Carcinoma, Renal Cell as compared to allele G. T Is Associated with concentrations of in people with Disease:Renal Cell Carcinoma G +1449310602 rs2032582 ABCB1 axitinib 29682213 Metabolism/PK yes The authors develop a prediction model and calculated area under the concentration curve (AUC) using 6 SNPs (rs17868323, rs3832043, rs2231142, rs2032582, rs1045642, rs35305980) was compared with actual AUC in 16 patients prospectively which significantly correlated with the objective response rate (P = 0.0002), hand-foot syndrome, P = 0.0055 and hypothyroidism, P = 0.0381, and correlated with actual AUC (P < 0.0001) - the validation study, calculated AUC prior to axitinib treatment precisely predicted actual AUC after axitinib treatment (P = 0.0066). Allele T is associated with concentrations of axitinib in people with Carcinoma, Renal Cell as compared to allele C. T Is Associated with concentrations of in people with Disease:Renal Cell Carcinoma C +1451230740 CYP2D6 intermediate metabolizer CYP2D6 brexpiprazole 28750151 Metabolism/PK not stated 15 and 6 patients were classified as NMs (genotypes including at least 1 active allele) and IMs (genotypes with 2 decreased-activity alleles or 1 decreased-activity allele and 1 inactive allele or 1decreased-activity allele and 1 unknown-activity allele). Metabolic activity was defined as the normal alleles *1 and *2, the decreased-activity alleles *10 and *41, the inactive alleles *4, *5, and *14A, and the unknown-activity alleles *14B, *18, and *21. For PK parameters of brexpiprazole, both Cmax/D and AUC24h/D were higher in IM patients than in EM patients. The Cmax and AUC24h in EM and IM patients of brexpiprazole following multiple administrations of brexpiprazole were 2.6–2.8 and 4.5–5.8 times higher, respectively, on day 14 compared with day 1 based on the accumulation index. CL/F waslower in IM patients than in EM patients. CYP2D6 intermediate metabolizer is associated with decreased metabolism of brexpiprazole in people with Schizophrenia as compared to CYP2D6 normal metabolizer. intermediate metabolizer Is Associated with decreased metabolism of in people with Other:Schizophrenia normal metabolizer +1184514826 rs776746 CYP3A5 tacrolimus 21671989 Dosage not stated Patients carrying different CYP3A5 genotypes had tacrolimus dose requirement in the order of: CYP3A5*1/*1>CYP3A5*1/*3>CYP3A5*3/*3 at 2, 4, 6, 8, 10, 12, 14, 16, 18, 20, 22 and 24 week post-transplantation. Allele T is associated with increased dose of tacrolimus in people with Kidney Transplantation as compared to allele C. T Is Associated with increased dose of in people with Disease:Kidney Transplantation C +1184515001 rs776746 CYP3A5 tacrolimus 21671989 Metabolism/PK not stated Patients carrying at least one CYP3A5*1 allele had lower trough tacrolimus levels than CYP3A5*3/*3 carriers at 2, 4, 6, 8, 10, 12, 14, 16, 18, 20, 22 and 24 week post-transplantation. Compared to CYP3A5*3/*3 carriers, CL/F was increased by 69% in CYP3A5*1/*3 carriers, and increased by 100 in CYP3A5*1/*1 carriers. Other factors affecting tacrolimus CL/F were days post transplant, transplantation at a steroid sparing center, recipient's age and the use of calcium channel blockers. Allele T is associated with increased metabolism of tacrolimus in people with Kidney Transplantation as compared to allele C. T Is Associated with increased metabolism of in people with Disease:Kidney Transplantation C +1451548145 rs1045642 ABCB1 celiprolol 34585840 Metabolism/PK yes """the AUC0-infinity values were 213% smaller (p < 5 × 10−3) per copy of the ABCB1 c.3435T>C minor allele"". Alleles complemented to plus chromosomal strand." Allele G is associated with decreased concentrations of Celiprolol in healthy individuals as compared to allele A. G Is Associated with decreased concentrations of in healthy individuals A +1451548140 rs11568563 SLCO1A2 celiprolol 34585840 Metabolism/PK yes """the AUC0-infinity values were 25% smaller (p < 5 × 10−4) per copy of the SLCO1A2 c.516A>C minor allele"". Alleles complemented to plus chromosomal strand." Allele G is associated with decreased concentrations of Celiprolol in healthy individuals as compared to allele T. G Is Associated with decreased concentrations of in healthy individuals T +1183490988 CYP2C9*1, CYP2C9*2, CYP2C9*3 CYP2C9 losartan 19669737 Efficacy yes Patients with secondary kidney diseases carrying CYP2C9 variant alleles (*2 or *3) showed increases in blood pressure (both systolic and diastolic) as compared to patients with the *1/*1 genotype. A nonsignificant trend towards improved urinary protein excretion was seen in patients with primary kidney diseases with the *1/*1 genotype as compared to patients carrying variant alleles (*2 or *3). CYP2C9 *1/*3 is associated with decreased response to losartan in people with Kidney Diseases as compared to CYP2C9 *1/*1. *1/*3 Is Associated with decreased response to in people with Disease:Kidney Disorder *1/*1 +1183490976 CYP2C9*1, CYP2C9*2, CYP2C9*3 CYP2C9 losartan 19669737 Efficacy yes Patients with secondary kidney diseases carrying CYP2C9 variant alleles (*2 or *3) showed increases in blood pressure (both systolic and diastolic) as compared to patients with the *1/*1 genotype. A nonsignificant trend towards improved urinary protein excretion was seen in patients with primary kidney diseases with the *1/*1 genotype as compared to patients carrying variant alleles (*2 or *3). CYP2C9 *1/*2 is associated with decreased response to losartan in people with Kidney Diseases as compared to CYP2C9 *1/*1. *1/*2 Is Associated with decreased response to in people with Disease:Kidney Disorder *1/*1 +1447986186 rs10455872 LPA hmg coa reductase inhibitors 27045730 Efficacy yes as part of a three SNP genetic risk score with rs2231142 in ABCG2 and rs2075650 in APOE. Associated allele not explicitly stated but methods reference Chasman et al., so used the associated allele from there [PMID:22331829]. Allele G is associated with decreased response to hmg coa reductase inhibitors as compared to allele A. G Is Associated with decreased response to A +1447986178 rs2231142 ABCG2 hmg coa reductase inhibitors 27045730 Efficacy yes as part of a three SNP genetic risk score with rs10455872 in LPA and rs2075650 in APOE. Associated allele not explicitly stated but methods reference Tomlinson et al. so used the associated allele from there [PMID:20130569]. Allele G is associated with decreased response to hmg coa reductase inhibitors as compared to allele T. G Is Associated with decreased response to T +1447986196 rs2075650 TOMM40 hmg coa reductase inhibitors 27045730 Efficacy yes as part of a three SNP genetic risk score with rs2231142 in ABCG2 and rs10455872 in LPA. Associated allele not explicitly stated but methods reference Chasman et al., so used the associated allele from there [PMID:22331829]. Allele G is associated with decreased response to hmg coa reductase inhibitors as compared to allele A. G Is Associated with decreased response to A +1447986147 rs17171676 SUGCT hmg coa reductase inhibitors 27045730 Efficacy no This SNP was found to be approaching significance in discovery cohort but was not significant in the replication cohort or combined cohorts. Direction of effect and specific allele was not explicitly described in paper. Allele C is associated with response to hmg coa reductase inhibitors as compared to allele A. C Is Associated with response to A +1183848503 CYP2C19*1, CYP2C19*2, CYP2C19*3 CYP2C19 voriconazole 20669013 Metabolism/PK yes The authors report that extensive metabolizers (*1/*1) and heterozygote extensive metabolizers (*1/*2 or *1/*3) had decreased elimination half life (hours), AUC (0-24, 0-infinity) (h*µg/mL), and increased apparent oral clearance (mL/min) of voriconazole when compared to poor metabolizers (*2/*2 +*2/*3). No significant difference was reported when comparing the same PK parameters between *1/*1 to *1/*2+*1/*3. Additionally, no significant differences were seen for maximum plasma concentrations (Cmax) or time to Cmax (Tmax). CYP2C19 *2/*2 + *2/*3 (assigned as poor metabolizer phenotype) is associated with decreased metabolism of voriconazole in healthy individuals as compared to CYP2C19 *1/*1 + *1/*2 + *1/*3. *2/*2 + *2/*3 poor metabolizer Is Associated with decreased metabolism of in healthy individuals *1/*1 + *1/*2 + *1/*3 +1452535740 CYP2C19*1, CYP2C19*2, CYP2C19*3, CYP2C19*17 CYP2C19 mavacamten 39014868 Metabolism/PK not stated """The total exposures for CYP2C19 IM and CYP2C19 PM were increased approximately 1.8‐ to 4‐fold when compared to CYP2C19 UM/RM/NM."" There were no UM (*17/*17) or *3/*3." CYP2C19 *1/*2 + *1/*3 + *2/*3 + *2/*2 (assigned as intermediate metabolizer and poor metabolizer phenotype) is associated with increased exposure to mavacamten in healthy individuals as compared to CYP2C19 *1/*1 + *1/*17 (assigned as normal metabolizer and rapid metabolizer phenotype) . *1/*2 + *1/*3 + *2/*3 + *2/*2 intermediate metabolizer and poor metabolizer Is Associated with increased exposure to in healthy individuals *1/*1 + *1/*17 normal metabolizer and rapid metabolizer +1452291702 rs36210737 CFTR elexacaftor / tezacaftor / ivacaftor 37920361 Efficacy no """We report 2 cases of pwCF with the rare M1101K variant who have improvements in lung function, pulmonary exacerbation frequency, respiratory symptoms and BMI following 6 months of ETI CFTR modulator therapy."" (mapped to rs36210737AA)" Genotype AA is associated with increased clinical benefit to elexacaftor / tezacaftor / ivacaftor. AA Is Associated with increased clinical benefit to +1451921160 rs2273697 ABCC2 lacosamide 36253887 Metabolism/PK yes Genotype GG is associated with increased concentrations of lacosamide in children with Epilepsy as compared to genotypes AA + AG. GG Pediatric Is Associated with increased concentrations of in children with Other:Epilepsy AA + AG +1451921167 rs717620 ABCC2 lacosamide 36253887 Metabolism/PK yes Genotype CC is associated with increased concentrations of lacosamide in children with Epilepsy as compared to genotypes CT + TT. CC Pediatric Is Associated with increased concentrations of in children with Other:Epilepsy CT + TT +1451921140 rs2273697 ABCC2 lacosamide 36253887 Efficacy yes """the proportion of patients with the ABCC2 1249G>A (rs2273697) A; allele and ABCC2 -24C>T (rs717620) T allele in the drug-resistant group was; significantly higher than that in the drug-responsive group""" Allele A is associated with increased resistance to lacosamide in children with Epilepsy as compared to allele G. A Pediatric Is Associated with increased resistance to in children with Other:Epilepsy G +1451921146 rs717620 ABCC2 lacosamide 36253887 Efficacy yes """the proportion of patients with the ABCC2 1249G>A (rs2273697) A; allele and ABCC2 -24C>T (rs717620) T allele in the drug-resistant group was; significantly higher than that in the drug-responsive group""" Allele T is associated with increased resistance to lacosamide in children with Epilepsy as compared to allele C. T Pediatric Is Associated with increased resistance to in children with Other:Epilepsy C +1450969140 CYP2C9*1, CYP2C9*2 CYP2C9 phenytoin 31461080 Metabolism/PK yes Compared to CYP2C9 extensive metabolizers (*1/*1 by the absence of *2 or *3), high-intermediate metabolizers (*1/*2) had an 8.6 pg/mL increase in mean dose-ad- justed phenytoin blood concentrations [95% confidence interval (CI): 2.3–14.8pg/mL; P<0.01] CYP2C9 *1/*2 is associated with increased concentrations of phenytoin as compared to CYP2C9 *1/*1. *1/*2 Is Associated with increased concentrations of *1/*1 +1450969200 CYP2C9*1, CYP2C9*2, CYP2C9*3 CYP2C9 phenytoin 31461080 Metabolism/PK yes Compared to CYP2C9 extensive metabolizers, low-intermediate/poor metabolizers had a 21.3-pg/mL increase (95% CI: 13.6–29.0pg/mL; P<0.01) CYP2C9 *1/*3 + *2/*2 + *2/*3 + *3/*3 are associated with increased concentrations of phenytoin as compared to CYP2C9 *1/*1. *1/*3 + *2/*2 + *2/*3 + *3/*3 Are Associated with increased concentrations of *1/*1 +1450969293 CYP2C9*1, CYP2C9*2, CYP2C9*3 CYP2C9 phenytoin 31461080 Dosage yes Low-intermediate/poor CYP2C9 genotype was associated with greater odds of having a lower dose by the end of the first year of treatment in the full cohort (OR 1.11; 95% CI: 1.02–1.22; P=0.02). CYP2C9 *1/*3 + *2/*2 + *2/*3 + *3/*3 are associated with decreased dose of phenytoin as compared to CYP2C9 *1/*1. *1/*3 + *2/*2 + *2/*3 + *3/*3 Are Associated with decreased dose of *1/*1 +1184990042 CYP2C19*1, CYP2C19*3 CYP2C19 clopidogrel 25329996 Efficacy yes CYP2C19 *3 is associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to CYP2C19 *1. *3 Is Associated with decreased response to in people with Disease:Coronary Artery Disease *1 +1184990030 CYP2C19*1, CYP2C19*2 CYP2C19 clopidogrel 25329996 Efficacy yes CYP2C19 *2 is associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to CYP2C19 *1. *2 Is Associated with decreased response to in people with Disease:Coronary Artery Disease *1 +1184990053 rs662 PON1 clopidogrel 25329996 Efficacy no Allele T is not associated with response to clopidogrel in people with Coronary Artery Disease as compared to allele C. T Is Not associated with response to in people with Disease:Coronary Artery Disease C +1184168705 rs11322783 IFNL4 peginterferon alfa-2a, ribavirin 24748394 Efficacy yes Patients were infected with HCV genotype 1 or 4. Sustained viral response (SVR) was defined as undetectable plasma HCV RNA 24 weeks after the completion of treatment. The two SNPs rs12979860 (IL28B) and rs368234815 (IFNL4) are in strong LD (r squared of 0.82). The -G allele of rs368234815 causes a frame shift in the DNA sequence (TT-> -G) which has been shown, in vitro, to induce expression of IFNL4, possibly affecting HCV clearance.; The SNPs were also tested by HCV genotype (1 or 4) and were both equally predictive.; The AUROC model that included rs368234815 was 0.756 (95% CI: 0.687-0.826) Genotype TT/TT is associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C as compared to genotypes G/TT + GG. TT/TT Is Associated with increased response to and in people with Disease:Hepatitis C virus infection G/TT + GG +1184985914 rs12979860 IFNL3, IFNL4 peginterferon alfa-2a, ribavirin 24748394 Efficacy yes Patients were infected with HCV genotype 1 or 4. Sustained viral response (SVR) was defined as undetectable plasma HCV RNA 24 weeks after the completion of treatment. The two SNPs rs12979860 (IL28B) and rs368234815 (IFNL4) are in strong LD (r squared of 0.82).; The SNPs were also tested by HCV genotype (1 or 4) and were both equally predictive.; The AUROC model that included rs12979860 was 0.742 (95% CI: 0.672-0.813) Genotype CC is associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C as compared to genotypes CT + TT. CC Is Associated with increased response to and in people with Disease:Hepatitis C virus infection CT + TT +1447520749 rs3745274 CYP2B6 methadone 25456329 Metabolism/PK yes Allele T is associated with decreased clearance of methadone in people with Opioid-Related Disorders as compared to allele G. T Is Associated with decreased clearance of in people with Disease:Opioid-Related Disorders G +1447520720 rs2032582 ABCB1 methadone 25456329 Metabolism/PK yes Genotype CC is associated with decreased clearance of methadone in people with Opioid-Related Disorders as compared to genotypes AC + CT. CC Is Associated with decreased clearance of in people with Disease:Opioid-Related Disorders AC + CT +1452697440 rs312481 CACNA1D amlodipine 39492848 Efficacy yes """Individuals with the GG genotype demonstrated a significant independent reduction in blood pressure (unadjusted odds ratio (95% CI)=2.91(1.34–4.97), p=0.021). After adjusting for confounding variables, the association between SNP rs312481 and blood pressure regulation by amlodipine remained consistent (adjusted odds ratio (95% CI)= 2.01 (1.12–5.01), P=0.024). """ Genotype GG is associated with increased clinical benefit to amlodipine in people with Hypertension as compared to genotypes AA + AG. GG Is Associated with increased clinical benefit to in people with Other:Hypertension AA + AG +1452697461 rs2239050 CACNA1C amlodipine 39492848 Efficacy yes """A strong association between amlodipine response and the SNP rs2239050/CACNA1C was observed in the study participants. Participants carrying the GG genotype had better response/outcomes (P=0.004) when treated with amlodipine than carriers of CC or CG genotypes. After adjusting for confounding factors (age, sex, drug and diet compliance, etc)., no observable changes were noticed in the degree, level, or magnitude of the association. """ Genotype GG is associated with increased clinical benefit to amlodipine in people with Hypertension as compared to genotypes CC + CG. GG Is Associated with increased clinical benefit to in people with Other:Hypertension CC + CG +1451552752 rs45445694 TYMS methotrexate 32612964 Metabolism/PK no Variant mapped to rs45445694 by PharmGKB. Genotype (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 is associated with increased steady-state concentration of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 + (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3. (CCGCGCCACTTGGCCTGCCTCCGTCCCG)3/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 Pediatric Is Associated with increased steady-state concentration of in children with Other:Acute lymphoblastic leukemia (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)2 + (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2/(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 +1451552723 rs1801133 MTHFR methotrexate 32612964 Metabolism/PK yes SNP is referred to in the paper as 677 C>T and was mapped to rs1801133 by PharmGKB. Please note that alleles have been complemented to the positive strand. Genotypes AG + GG are associated with increased steady-state concentration of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype AA. AG + GG Pediatric Are Associated with increased steady-state concentration of in children with Other:Acute lymphoblastic leukemia AA +1451552740 rs1051266 SLC19A1 methotrexate 32612964 Metabolism/PK yes SNP is referred to in the paper as 80 G>A and was mapped to rs1051266 by PharmGKB. Please note that alleles have been complemented to the positive strand. Genotype TT is associated with increased steady-state concentration of methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotypes CC + CT. TT Pediatric Is Associated with increased steady-state concentration of in children with Other:Acute lymphoblastic leukemia CC + CT +982044398 rs1417938 CRP fenofibrate 18285551 Efficacy yes Patients with the TT genotype had a greater reduction in C-reactive protein (CRP) levels between baseline and 3 weeks of treatment, as compared to carriers of the A allele. In strong linkage disequilibrium with rs3091244 and rs1205 (r2 = 0.4 - 0.9, p < 0.001) and in weak linkage disequilibrium with rs3093059 (r2 = 0.17, p < 0.05). Genotype TT is associated with increased response to fenofibrate in people with Metabolic Syndrome as compared to genotypes AA + AT. TT Is Associated with increased response to in people with Disease:Metabolic Syndrome AA + AT +982044434 rs1205 CRP fenofibrate 18285551 Efficacy no No significant difference in the change of C-reactive protein (CRP) levels between baseline and 3 weeks of treatment, was seen between genotypes. In strong linkage disequilibrium with rs3091244 and rs1417938 (r2 = 0.4 - 0.9, p < 0.001) and in weak linkage disequilibrium with rs3093059 (r2 = 0.17, p < 0.05). Genotype CC is not associated with response to fenofibrate in people with Metabolic Syndrome as compared to genotypes CT + TT. CC Is Not associated with response to in people with Disease:Metabolic Syndrome CT + TT +982044407 rs3091244 CRP fenofibrate 18285551 Efficacy yes Patients with the GG, GA and GT genotypes had a greater reduction in C-reactive protein (CRP) levels between baseline and 3 weeks of treatment, as compared to those with the AA and AT genotypes. In strong linkage disequilibrium with rs1205 and rs1417938 (r2 = 0.4 - 0.9, p < 0.001) and rs3093059 (r2 = 0.935, p < 0.001). Genotypes AG + GG are associated with increased response to fenofibrate in people with Metabolic Syndrome as compared to genotypes AA + AT. AG + GG Are Associated with increased response to in people with Disease:Metabolic Syndrome AA + AT +982044416 rs3091244 CRP fenofibrate 18285551 Efficacy yes Patients with the GG, GA and GT genotypes had a greater reduction in C-reactive protein (CRP) levels between baseline and 3 weeks of treatment, as compared to those with the AA and AT genotypes. In strong linkage disequilibrium with rs1205 and rs1417938 (r2 = 0.4 - 0.9, p < 0.001) and rs3093059 (r2 = 0.935, p < 0.001). Genotypes GG + GT are associated with increased response to fenofibrate in people with Metabolic Syndrome as compared to genotypes AA + AT. GG + GT Are Associated with increased response to in people with Disease:Metabolic Syndrome AA + AT +982044478 rs3093059 CRP fenofibrate 18285551 Efficacy no No significant difference in the change of C-reactive protein (CRP) levels between baseline and 3 weeks of treatment, was seen between genotypes. In strong linkage disequilibrium with rs3091244 (r2 = 0.935, p < 0.001) and in weak linkage disequilibrium with rs1417938 and rs1205 (r2 = 0.17, p < 0.05). Genotype AA is not associated with response to fenofibrate in people with Metabolic Syndrome as compared to genotypes AG + GG. AA Is Not associated with response to in people with Disease:Metabolic Syndrome AG + GG +1446899495 rs11623866 FNTB carboplatin, lonafarnib, paclitaxel 26033044 Efficacy yes The authors actually compared progression free survival (PFS) and overall survival (OS) for individuals with the GG, CG, or CC genotypes between treatment arms: lonafarnib, paclitaxel, and carboplatin (LTC) versus paclitaxel and carboplatin (TC) treatment. The PFS and OS were both much lower in women with the GG genotype who were on the LTC treatment arms. Genotype GG is associated with response to carboplatin, lonafarnib and paclitaxel in women with Ovarian Neoplasms. GG Is Associated with response to and in women with Disease:Ovarian Neoplasms +1449713195 rs8099917 IFNL3, IFNL4 peginterferon alfa-2a 30016335 Efficacy no The authors found no association between IFNL3 genotype and peginterferon 2a response in either HBeAg-positive or HBeAg-negative chronic hepatitis B patients, in both Asian and White patients. Genotype TT is not associated with response to peginterferon alfa-2a in people with Hepatitis B, Chronic as compared to genotypes GG + GT. TT Is Not associated with response to in people with Disease:Hepatitis B, Chronic GG + GT +1449713186 rs12980275 IFNL3 peginterferon alfa-2a 30016335 Efficacy no The authors found no association between IFNL3 genotype and peginterferon 2a response in either HBeAg-positive or HBeAg-negative chronic hepatitis B patients, in both Asian and White patients. Genotype AA is not associated with response to peginterferon alfa-2a in people with Hepatitis B, Chronic as compared to genotypes AG + GG. AA Is Not associated with response to in people with Disease:Hepatitis B, Chronic AG + GG +1449713162 rs12979860 IFNL3, IFNL4 peginterferon alfa-2a 30016335 Efficacy no The authors found no association between IFNL3 genotype and peginterferon 2a response in either HBeAg-positive or HBeAg-negative chronic hepatitis B patients, in both Asian and White patients. Genotype CC is not associated with response to peginterferon alfa-2a in people with Hepatitis B, Chronic as compared to genotypes CT + TT. CC Is Not associated with response to in people with Disease:Hepatitis B, Chronic CT + TT +1450664704 CYP2C19*1, CYP2C19*2, CYP2C19*3 CYP2C19 prasugrel 21689142 Metabolism/PK no CYP2C19 *2/*3 is not associated with area under the plasma concentration-time curve and Cmax when exposed to prasugrel in healthy individuals as compared to CYP2C19 *1/*1. IMs and NMs had similar Pras-AM concentration time profiles, but PMs had lower Pras-AM concentrations than did IMs or NMs (no statistics),difference between PMs and NMs was 13% (90% CI 0%, 25%).; Note: P values were NOT provided in the study. Authors chose to report of confidence interval cut-off of 90%, (not classical cut-off of 95%). One outlier subject was removed from analysis. CYP2C19 *2/*2 + *2/*3 are not associated with metabolism of prasugrel in healthy individuals as compared to CYP2C19 *1/*1. *2/*2 + *2/*3 Are Not associated with metabolism of in healthy individuals *1/*1 +1450664694 CYP2C19*1, CYP2C19*2, CYP2C19*3 CYP2C19 clopidogrel 21689142 Metabolism/PK not stated PMs and IMs had lower con-centrations of active metabolite than did *1/*1 and PMs had lower concentrations than did IMs. CYP2C19 *2/*3 is associated with increased area under the plasma concentration-time curve and Cmax as compared to CYP2C19 *1/*1.; Note: P values were NOT provided in the study. Authors chose to report of confidence interval cut-off of 90%, (not classical cut-off of 95%). Confidence interval of 90% does not cross 1 so that suggesting significance. CYP2C19 *2/*2 + *2/*3 is associated with decreased metabolism of clopidogrel in healthy individuals as compared to CYP2C19 *1/*1. *2/*2 + *2/*3 Is Associated with decreased metabolism of in healthy individuals *1/*1 +1450664729 CYP2C19*1, CYP2C19*2, CYP2C19*3 CYP2C19 prasugrel 21689142 Efficacy no Response to prasugrel treatment was unaffected by CYP2C19 genetic variation based on IPA to 20 mM ADP as measured by LTA, the VN P2Y12 assay and VASP phosphorylation. CYP2C19 *2/*2 + *2/*3 are not associated with response to prasugrel in healthy individuals as compared to CYP2C19 *1/*1. *2/*2 + *2/*3 Are Not associated with response to in healthy individuals *1/*1 +1184515279 rs776746 CYP3A5 tacrolimus 17391324 Metabolism/PK yes Healthy subjects with the CYP3A5*1/*1 (TT) or *1/*3 (CT) genotype had significantly lower AUC and Cmax values when compared with subjects with the CYP3A5*3/*3 (CC) genotype. Genotypes CT + TT is associated with increased clearance of tacrolimus in healthy individuals as compared to genotype CC. CT + TT Is Associated with increased clearance of in healthy individuals CC +1448256681 rs8192675 SLC2A2 metformin 27500523 Efficacy yes The C allele of rs8192675 was associated with a 0.17% (P = 6.6 × 10-14) greater metformin-induced reduction in hemoglobin A1c (HbA1c) in 10,577 participants of European ancestry. Allele C is associated with increased response to metformin in people with Diabetes Mellitus as compared to allele T. C Is Associated with increased response to in people with Disease:Diabetes Mellitus T +1183698962 rs3745274 CYP2B6 methadone 21790905 Dosage yes Patients with the GG or GT genotype required an increased mean daily methadone dose (mg/day) as compared to those with the TT genotype. Please note that this SNP was found to be in strong LD (D' = 1 and r2 = 0.9) with rs2279343 in this sample population. Genotypes GG + GT are associated with increased dose of methadone in people with Heroin Dependence as compared to genotype TT. GG + GT Are Associated with increased dose of in people with Disease:Heroin Dependence TT +1183698967 rs2279343 CYP2B6 methadone 21790905 Dosage yes Patients with the AA or AG genotype required an increased mean daily methadone dose (mg/day) as compared to those with the GG genotype. Please note that this SNP was found to be in strong LD (D' = 1 and r2 = 0.9) with rs3745274 in this sample population. Genotypes AA + AG are associated with increased dose of methadone in people with Heroin Dependence as compared to genotype GG. AA + AG Are Associated with increased dose of in people with Disease:Heroin Dependence GG +1449003184 CYP2D6 poor metabolizer genotype CYP2D6 oxycodone 20590587 Metabolism/PK yes The half-life of oxycodone was significantly increased in poor metabolizers compared to extensive metabolizers, but there was no significant difference in oxycodone half-life between poor metabolizers and ultrarapid metabolizers. CYP2D6 poor metabolizer is associated with increased exposure to oxycodone in healthy individuals as compared to CYP2D6 normal metabolizer. poor metabolizer Is Associated with increased exposure to in healthy individuals normal metabolizer +1449003191 CYP2D6 poor metabolizer genotype CYP2D6 oxymorphone 20590587 Metabolism/PK yes The AUC for oxymorphone was significantly lower in poor metabolizers than in extensive metabolizers. CYP2D6 poor metabolizer is associated with decreased exposure to oxymorphone in healthy individuals as compared to CYP2D6 normal metabolizer. poor metabolizer Is Associated with decreased exposure to in healthy individuals normal metabolizer +1449003196 CYP2D6 poor metabolizer genotype CYP2D6 oxymorphone 20590587 Metabolism/PK yes The AUC for oxymorphone was significantly lower in poor metabolizers than in ultrarapid metabolizers. CYP2D6 poor metabolizer is associated with decreased exposure to oxymorphone in healthy individuals as compared to CYP2D6 ultrarapid metabolizer. poor metabolizer Is Associated with decreased exposure to in healthy individuals ultrarapid metabolizer +1449003201 CYP2D6 poor metabolizer genotype CYP2D6 noroxymorphone 20590587 Metabolism/PK yes Cmax and AUC for noroxymorphone were significantly lower in poor metabolizers than in extensive metabolizers. CYP2D6 poor metabolizer is associated with decreased concentrations of noroxymorphone in healthy individuals as compared to CYP2D6 normal metabolizer. poor metabolizer Is Associated with decreased concentrations of in healthy individuals normal metabolizer +1449003206 CYP2D6 poor metabolizer genotype CYP2D6 noroxymorphone 20590587 Metabolism/PK yes Cmax and AUC for noroxymorphone were significantly lower in poor metabolizers than in ultrarapid metabolizers. CYP2D6 poor metabolizer is associated with decreased concentrations of noroxymorphone in healthy individuals as compared to CYP2D6 ultrarapid metabolizer. poor metabolizer Is Associated with decreased concentrations of in healthy individuals ultrarapid metabolizer +1449003217 CYP2D6 ultrarapid metabolizer genotype CYP2D6 noroxycodone 20590587 Metabolism/PK yes AUC for noroxycodone was significantly lower in poor metabolizers than in extensive metabolizers. However, differences in Cmax between the two metabolizer genotypes failed to reach significance. CYP2D6 ultrarapid metabolizer is associated with decreased exposure to noroxycodone in healthy individuals as compared to CYP2D6 normal metabolizer. ultrarapid metabolizer Is Associated with decreased exposure to in healthy individuals normal metabolizer +1451727662 CYP2D6 poor metabolizers and intermediate metabolizers CYP2D6 primaquine 35279143 Efficacy no "CYP2D6 was assessed using ""mass array VeriDose CYP2D6 CNV Panel"". Authors group PM and IM as ""reduced CYP2D6 activity"" and was 33/157 individuals, 3 individuals were increased activity. ""none of the patients had parasitaemia on day 3""" CYP2D6 poor metabolizers and intermediate metabolizers is not associated with decreased clinical benefit to primaquine in children with Malaria as compared to CYP2D6 normal metabolizer. Pediatric intermediate metabolizer and poor metabolizer Is Not associated with decreased clinical benefit to in children with Other:Malaria normal metabolizer +1451727780 G6PD deficiency G6PD primaquine 35279143 Efficacy no "Authors measured ""two most common polymorphisms associated with G6PD deficiency in Africa i.e., A376G (rs1050829 A > G/T > C) and G202A (rs1050828 G > A/C > T) "" and ""The outcomes were classified as follows; For males A was defined as wild-type/normal and A− as hemizygous/deficient G6PD status, whereas for females A−A− was defined as homozygous/deficient, AA− and BA− as heterozygous/intermediate and AA and BA as wild-type/normal G6PD status"". Hemizygous/homozygous G6PD deficient, n = 20, and G6PD heterozygous female, n = 21. ""none of the patients had parasitaemia on day 3""" G6PD deficiency is not associated with decreased clinical benefit to primaquine in children with Malaria as compared to G6PD non-deficient. Pediatric deficiency Is Not associated with decreased clinical benefit to in children with Other:Malaria non-deficient +1451152645 CYP2D6 poor metabolizer phenotype CYP2D6 ethylmorphine 7654478 Metabolism/PK not stated Study of ethylmorphine metabolism in ten healthy volunteers. Authors genotyped for the CYP2D6*3, *4, *5 and *9 alleles, referred to in the paper as CYP2D6A, CYP2D6B, CYP2D6D and CYP2D6C respectively. One subject had the *1/*3 genotype, two were *1/*4 and two had the *1/*5 genotype. All other subjects were *1/*1. However, the authors describe their results in terms of the metabolizer phenotypes obtained using ethylmorphine as a probe drug, which identified two poor metabolizers (one *1/*3 and one *1/*5) and eight normal metabolizers. The discussion section of the paper mentions that ethylmorphine is not a suitable probe drug for determining CYP2D6 activity, due to the existence of other ethylmorphine metabolic pathways via UGT1A and CYP3A. CYP2D6 poor metabolizer is associated with decreased metabolism of ethylmorphine in healthy individuals as compared to CYP2D6 normal metabolizer. poor metabolizer Is Associated with decreased metabolism of in healthy individuals normal metabolizer +1451679200 rs1799971 OPRM1 methadone 34910759 Dosage no Allele G is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele A. G Is Not associated with dose of in people with Other:Opioid-Related Disorders A +1451679260 rs10485058 OPRM1 methadone 34910759 Dosage no Allele G is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele A. G Is Not associated with dose of in people with Other:Opioid-Related Disorders A +1451679040 rs3745274 CYP2B6 methadone 34910759 Efficacy no The T allele was associated with reduced odds of continued opioid use in male patients undergoing MMT. However, this was not significant. No association was found in female patients. Allele T is associated with increased response to methadone in men with Opioid-Related Disorders as compared to allele G. T Is Associated with increased response to in men with Other:Opioid-Related Disorders G +1451679100 rs3745274 CYP2B6 methadone 34910759 Dosage no Allele T is not associated with dose of methadone in people with Opioid-Related Disorders as compared to allele G. T Is Not associated with dose of in people with Other:Opioid-Related Disorders G +1451679111 rs73568641 methadone 34910759 Dosage no The C allele was associated with reduced dose of methadone in female patients. However, this was not significant. No association was found in male patients. The significance threshold was set at p<0.017. This SNP is described in the paper as an OPRM1 SNP. Allele C is associated with decreased dose of methadone in women with Opioid-Related Disorders as compared to allele T. C Is Associated with decreased dose of in women with Other:Opioid-Related Disorders T +1451679146 rs1799971 OPRM1 methadone 34910759 Efficacy no No association between this SNP and odds of continued opioid use or risk of relapse in patients undergoing MMT. Significance threshold was set to p<0.017. Allele G is not associated with response to methadone in people with Opioid-Related Disorders as compared to allele A. G Is Not associated with response to in people with Other:Opioid-Related Disorders A +1451679140 rs73568641 methadone 34910759 Efficacy no The C allele was associated with reduced odds of continued opioid use in female patients undergoing MMT. However, this was not significant. No association was found in male patients. The significance threshold was set at p<0.017. This SNP is described in the paper as an OPRM1 SNP. Allele C is associated with increased response to methadone in women with Opioid-Related Disorders as compared to allele T. C Is Associated with increased response to in women with Other:Opioid-Related Disorders T +1451679300 rs10485058 OPRM1 methadone 34910759 Efficacy no No association between this SNP and odds of continued opioid use or risk of relapse in patients undergoing MMT. Significance threshold was set to p<0.017. Allele G is not associated with response to methadone in people with Opioid-Related Disorders as compared to allele A. G Is Not associated with response to in people with Other:Opioid-Related Disorders A +1450812854 rs1799971 OPRM1 ethanol 20479755 Efficacy yes Subjects with the AG genotype showed significantly increased striatal dopamine release following administration of alcohol compared to AA subjects. Genotype AG is associated with increased response to ethanol in men as compared to genotype AA. AG Is Associated with increased response to in men AA +1452054720 rs57098334 SLC6A4 sertraline 32723321 Efficacy no Genotype (AGCCCACCC)10/(AGCCCACCC)10 is not associated with response to sertraline in people with Panic Disorder as compared to genotype (AGCCCACCC)12/(AGCCCACCC)12. (AGCCCACCC)10/(AGCCCACCC)10 Is Not associated with response to in people with Other:Panic Disorder (AGCCCACCC)12/(AGCCCACCC)12 +1452054740 SLC6A4 HTTLPR long form (L allele), SLC6A4 HTTLPR short form (S allele) SLC6A4 sertraline 32723321 Efficacy yes SLC6A4 HTTLPR short form (S allele) is associated with decreased response to sertraline in people with Panic Disorder as compared to SLC6A4 HTTLPR long form (L allele). HTTLPR short form (S allele) Is Associated with decreased response to in people with Other:Panic Disorder HTTLPR long form (L allele) +1452043320 rs6313 HTR2A sertraline 32723321 Efficacy no rs6313 was not associated with significant differences in response (PDSS) in patients receiving sertraline. Allele A is not associated with response to sertraline in people with Panic Disorder as compared to allele G. A Is Not associated with response to in people with Other:Panic Disorder G +1447946656 CYP3A4*1, CYP3A4*18 CYP3A4 tacrolimus 26770526 Metabolism/PK yes CYP3A4*18B was negatively correlated with tacrolimus dose-adjusted trough concentrations (C/D). However, in the best multiple regression model, this allele no longer retained statistical significance. Factors that retained statistical significance were CYP3A5*3, hematocrit and albumin. PharmVar has consolidated CYP3A4*18B under CYP3A4*18 .001 CYP3A4 *18 is associated with decreased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to CYP3A4 *1. *18 Is Associated with decreased dose-adjusted trough concentrations of in people with Disease:Kidney Transplantation *1 +1447946634 CYP3A5*1, CYP3A5*3 CYP3A5 tacrolimus 26770526 Metabolism/PK yes CYP3A5*3 was positively correlated with tacrolimus dose-adjusted trough concentrations (C/D). In multiple regression analysis, the factors with statistical significance toward C/D were CYP3A5*3, hematocrit and albumin. CYP3A5*3 explained 23.5% of individual variations in C/D, followed by hematocrit (3.3%) and albumin (1.5%). CYP3A5 *3 is associated with increased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *1. *3 Is Associated with increased dose-adjusted trough concentrations of in people with Disease:Kidney Transplantation *1 +1449575844 rs116855232 NUDT15 azathioprine, mercaptopurine 29923122 Dosage yes The doses of thiopurines at the time when severe leukopenia was diagnosed were 39.4 ± 3.1 mg/day in TT which was significantly lower than 69.1 ± 28.1 mg/day in CC (8.50E-06) and 54.6 ± 19.1 mg/day in CT (p = 2.46E-02 ), Genotype TT is associated with decreased dose of azathioprine or mercaptopurine in people with Inflammatory Bowel Diseases as compared to genotypes CC + CT. TT Is Associated with decreased dose of or in people with Disease:Inflammatory Bowel Diseases CC + CT +1448612958 rs1799971 OPRM1 morphine 28346387 Dosage yes The setting was for palliative care of cancer patients. Genotype AG is associated with increased dose of morphine in people with Neoplasms as compared to genotype AA. AG Is Associated with increased dose of in people with Disease:Neoplasms AA +1448612967 rs4680 COMT morphine 28346387 Dosage no The setting was for palliative care of cancer patients. Allele G is not associated with dose of morphine in people with Neoplasms as compared to allele A. G Is Not associated with dose of in people with Disease:Neoplasms A +1448612973 rs1045642 ABCB1 morphine 28346387 Dosage no The setting was for palliative care of cancer patients. Allele A is not associated with dose of morphine in people with Neoplasms as compared to allele G. A Is Not associated with dose of in people with Disease:Neoplasms G +1184469950 CYP2C19*1, CYP2C19*2, CYP2C19*8, CYP2C19*17 CYP2C19 prasugrel 19429918 Efficacy, Metabolism/PK no VASP platelet reactivity index and VerifyNow(TM) P2Y12 reaction unit values were not significantly different in PM than in EM patients. Patients were also treated with aspirin. There were 35 EM (by genotype) and 15 PM (by genotype). Dosage was 600 mg loading/75 mg maintenance. CYP2C19 *1/*2 + *1/*8 + *2/*2 (assigned as poor metabolizer phenotype) is not associated with response to prasugrel in people with Coronary Artery Disease as compared to CYP2C19 *1/*1 + *1/*17 + *17/*17 (assigned as normal metabolizer phenotype) . *1/*2 + *1/*8 + *2/*2 poor metabolizer Is Not associated with response to in people with Disease:Coronary Artery Disease *1/*1 + *1/*17 + *17/*17 normal metabolizer +1184469857 CYP2C19*1, CYP2C19*2, CYP2C19*8, CYP2C19*17 CYP2C19 clopidogrel 19429918 Efficacy, Metabolism/PK yes Active metabolite exposure was significantly lower with PM than with EM. Patients were also treated with aspirin. There were 37 EM (by genotype) and 9 PM (by genotype). Dosage was 600 mg loading/75 mg maintenance. CYP2C19 *1/*2 + *1/*8 + *2/*2 (assigned as poor metabolizer phenotype) is associated with decreased metabolism of clopidogrel in people with Coronary Artery Disease as compared to CYP2C19 *1/*1 + *1/*17 + *17/*17 (assigned as normal metabolizer phenotype) . *1/*2 + *1/*8 + *2/*2 poor metabolizer Is Associated with decreased metabolism of in people with Disease:Coronary Artery Disease *1/*1 + *1/*17 + *17/*17 normal metabolizer +1184469934 CYP2C19*1, CYP2C19*2, CYP2C19*8, CYP2C19*17 CYP2C19 clopidogrel 19429918 Efficacy, Metabolism/PK yes VASP platelet reactivity index and VerifyNow(TM) P2Y12 reaction unit values were significantly higher in PM than in EM. Patients were also treated with aspirin. There were 37 EM (by genotype) and 9 PM (by genotype). Dosage was 600 mg loading/75 mg maintenance. CYP2C19 *1/*2 + *1/*8 + *2/*2 (assigned as poor metabolizer phenotype) is associated with decreased response to clopidogrel in people with Coronary Artery Disease as compared to CYP2C19 *1/*1 + *1/*17 + *17/*17 (assigned as normal metabolizer phenotype) . *1/*2 + *1/*8 + *2/*2 poor metabolizer Is Associated with decreased response to in people with Disease:Coronary Artery Disease *1/*1 + *1/*17 + *17/*17 normal metabolizer +1184469900 CYP2C19*1, CYP2C19*2, CYP2C19*8, CYP2C19*17 CYP2C19 prasugrel 19429918 Efficacy, Metabolism/PK no Patients were also treated with aspirin. There were 35 EM (by genotype) and 15 PM (by genotype). Dosage was 60 mg loading/10 mg maintenance. CYP2C19 *1/*2 + *1/*8 + *2/*2 (assigned as poor metabolizer phenotype) is not associated with metabolism of prasugrel in people with Coronary Artery Disease as compared to CYP2C19 *1/*1 + *1/*17 + *17/*17 (assigned as normal metabolizer phenotype) . *1/*2 + *1/*8 + *2/*2 poor metabolizer Is Not associated with metabolism of in people with Disease:Coronary Artery Disease *1/*1 + *1/*17 + *17/*17 normal metabolizer +1452645003 CYP2A6*1, CYP2A6*2, CYP2A6*4, CYP2A6*9, CYP2A6*12, CYP2A6*17, CYP2A6*20, CYP2A6*23, CYP2A6*24, CYP2A6*25, CYP2A6*26, CYP2A6*27, CYP2A6*28, CYP2A6*35 CYP2A6 nicotine 24448396 Metabolism/PK yes CYP2A6 reduced metabolizers(participants with 1 or more of the alleles: *2,*4,*9,*17,*20,*23,*25-*28,*35,*12,*24) showed 50% higher nicotine AUC and 40% lower 3HC/COT in non-smokers. CYP2A6 *2 + *4 + *9 + *17 + *20 + *23 + *25 + *26 + *27 + *28 + *35 + *12 + *24 (assigned as low activity phenotype) is associated with decreased metabolism of nicotine as compared to CYP2A6 *1/*1 (assigned as normal metabolizer phenotype) . *2 + *4 + *9 + *17 + *20 + *23 + *25 + *26 + *27 + *28 + *35 + *12 + *24 low activity Is Associated with decreased metabolism of *1/*1 normal metabolizer +1183703319 rs2266782 FMO3 nicotine 24448396 Metabolism/PK no This was described as a trend towards higher nicotine AUC. Participants received 4 mg oral nicotine. Genotypes AA + AG is associated with decreased metabolism of nicotine in CYP2A6 reduced, but not normal, metabolizers as compared to genotype GG. AA + AG Is Associated with decreased metabolism of in PK:CYP2A6 reduced, but not normal, metabolizers GG +1183703328 rs1057868 POR nicotine 24448396 Metabolism/PK yes Participants received 4 mg oral nicotine. 3HC/COT was measured. Genotypes CT + TT is associated with increased metabolism of nicotine in CYP2A6 normal, but not reduced, metabolizers as compared to genotype CC. CT + TT Is Associated with increased metabolism of in PK:CYP2A6 normal, but not reduced, metabolizers CC +1183697679 CYP2C9*1, CYP2C9*2, CYP2C9*3 CYP2C9 warfarin 23990957 Dosage yes Patients with the *2 or *3 alleles showed significantly lower doses (17% or 32%, respectively) of warfarin as compared to patients with the wildtype genotype (*1/*1). When studied together with VKORC1 1639G/A, patients carrying variants in both genes needed between 34.8% and 84% of the dose needed for patients wildtype for both genes. CYP2C9 *2 + *3 are associated with decreased dose of warfarin in people with Cardiovascular Diseases as compared to CYP2C9 *1. *2 + *3 Are Associated with decreased dose of in people with Disease:Cardiovascular Disease *1 +1183697705 rs9934438 VKORC1 warfarin 23990957 Dosage yes This SNP was presented as VKORC1 1173C>T. Patients carrying the A allele showed significantly lower doses of warfarin as compared to patients with the wildtype genotype, GG. Genotypes AA + AG is associated with decreased dose of warfarin in people with Cardiovascular Diseases as compared to genotype GG. AA + AG Is Associated with decreased dose of in people with Disease:Cardiovascular Disease GG +1183697701 rs7294 VKORC1 warfarin 23990957 Dosage yes This SNP was presented as VKORC1 3730G>A. Patients carrying the T allele showed significantly higher doses of warfarin as compared to patients with the wildtype genotype, CC. Genotypes CT + TT is associated with increased dose of warfarin in people with Cardiovascular Diseases as compared to genotype CC. CT + TT Is Associated with increased dose of in people with Disease:Cardiovascular Disease CC +1183697690 rs9923231 VKORC1 warfarin 23990957 Dosage yes A gene-dose effect was seen in that dose of warfarin decreased with the presence of the T allele: CC>CT>TT. When studied together with CYP2C9, patients carrying variants in both genes needed between 34.8% and 84% of the dose needed for patients wildtype for both genes. Genotype TT is associated with decreased dose of warfarin in people with Cardiovascular Diseases as compared to genotypes CC + CT. TT Is Associated with decreased dose of in people with Disease:Cardiovascular Disease CC + CT +1183697697 rs2108622 CYP4F2 warfarin 23990957 Dosage yes This SNP was presented as CYP4F2 1297G>A. Patients with the TT allele showed significantly higher doses of warfarin as compared to patients carrying the wildtype allele, C. However, this effect was small as the difference in dose between wildtype (CC) and homozygous variant (TT) genotypes was 0.6 mg/day. Genotypes CC + CT is associated with decreased dose of warfarin in people with Cardiovascular Diseases as compared to genotype TT. CC + CT Is Associated with decreased dose of in people with Disease:Cardiovascular Disease TT +1451237363 rs1142345 TPMT azathioprine 30987408 Dosage yes alleles complemented. No CC (*3C/(3C) homozygotes were reported. Genotype CT is associated with decreased dose of azathioprine in children with Colitis, Ulcerative or Crohn Disease as compared to genotype TT. CT Pediatric Is Associated with decreased dose of in children with Other:Ulcerative Colitis, Other:Crohn Disease or TT +1451237374 GSTM1 non-null, GSTM1 null GSTM1 azathioprine 30987408 Efficacy yes GSTM1 null is associated with decreased clinical benefit to azathioprine in children with Colitis, Ulcerative or Crohn Disease as compared to GSTM1 non-null. Pediatric Is Associated with decreased clinical benefit to in children with Other:Ulcerative Colitis, Other:Crohn Disease or non-null +1450934625 SLCO1B1*1, SLCO1B1*5 SLCO1B1 estrone sulfate 31190621 Metabolism/PK yes prior to treatment with aromatase inhibitors. SLCO1B1 *5 is associated with increased estrone sulfate in women with Breast Neoplasms as compared to SLCO1B1 *1/*1. *5 Is Associated with increased in women with Other:Breast Neoplasms *1/*1 +1450934891 SLCO1B1*1, SLCO1B1*5 SLCO1B1 estrone 31190621 Efficacy yes when treated with aromatase inhibitors. SLCO1B1 *5/*5 is associated with increased concentrations of estrone in women with Breast Neoplasms as compared to SLCO1B1 *1/*1 + *1/*5. *5/*5 Is Associated with increased concentrations of in women with Other:Breast Neoplasms *1/*1 + *1/*5 +1450934903 rs10841753 SLCO1B1 estrone sulfate 31190621 Efficacy yes "when treated with aromatase inhibitors. Authors describe association for number of ""variant allele"" compared to ""wild type"" and in figure 2 show ""wild type"" as TT. ""Each rs10841753 variant allele was associated with a decreased risk of failing to achieve undetectable E1S concentrations after 3 months of AI therapy however, there was no significant effect on E1 or E2"" stratified analysis showed was confined to the exemestane arm not letrozole arm." Allele C is associated with decreased concentrations of estrone sulfate in women with Breast Neoplasms as compared to allele T. C Is Associated with decreased concentrations of in women with Other:Breast Neoplasms T +1450934909 rs10841753 SLCO1B1 estrone sulfate 31190621 Metabolism/PK yes prior to treatment with aromatase inhibitors. Allele C is associated with decreased estrone sulfate in women with Breast Neoplasms as compared to allele T. C Is Associated with decreased in women with Other:Breast Neoplasms T +1451353708 CYP2D6 ultrarapid metabolizer CYP2D6 eliglustat 32438452 Dosage not stated Six patients in the study cohort were determined to be CYP2D6 ultrarapid metabolizers, four of whom recorded an eliglustat dose of 84mg three times daily, while the recommended dose for normal and intermediate metabolizers is 84mg twice daily. Note that eliglustat is not approved for use in CYP2D6 ultrarapid metabolizers. The paper does not detail how CYP2D6 phenotypes were determined. CYP2D6 ultrarapid metabolizer is associated with increased dose of eliglustat in people with Gaucher Disease as compared to CYP2D6 intermediate metabolizer and normal metabolizer. ultrarapid metabolizer Is Associated with increased dose of in people with Other:Gaucher Disease normal metabolizer and intermediate metabolizer +1184482805 rs3814637 CYP2C19 warfarin 23941071 Dosage yes """The mean warfarin dose in patients with the CYP2C19 rs3814637CC genotype was 3.39mg/day, which was higher than that in patients with the CYP2C19 rs3814637TT genotype (2.00mg/day).""" Genotype CC is associated with increased dose of warfarin as compared to genotypes CT + TT. CC Is Associated with increased dose of CT + TT +1184482810 rs1057910 CYP2C9 warfarin 23941071 Dosage yes """The mean warfarin dose in patients with the CYP2C9 rs1057910AA genotype was 3.34 mg/day, which was higher than that in patients with the CYP2C9 rs1057910CC genotype (0.81 mg/day).""" Genotypes AA + AC is associated with increased dose of warfarin as compared to genotype CC. AA + AC Is Associated with increased dose of CC +1184482814 rs699664 GGCX warfarin 23941071 Dosage yes The mean warfarin dose in patients with the GGCX rs699664 TT genotype was 3.51mg/day, which was higher than that in patients with the GGCX rs699664 CC genotype (3.09 mg/day). Genotypes CT + TT is associated with increased dose of warfarin as compared to genotype CC. CT + TT Is Associated with increased dose of CC +827784616 rs11045585 SLCO1B3 docetaxel 21995462 Other, Metabolism/PK yes Significance as part of a haplotype with rs4149118, rs7311358 and rs3834935. Allele G is associated with decreased clearance of docetaxel in people with Nasopharyngeal Neoplasms. G Is Associated with decreased clearance of in people with Disease:Nasopharyngeal Neoplasms +827784609 rs7311358 SLCO1B3 docetaxel 21995462 Other, Metabolism/PK yes Significance as part of a haplotype with rs4149118, rs11045585 and rs3834935. Allele A is associated with decreased clearance of docetaxel in people with Nasopharyngeal Neoplasms. A Is Associated with decreased clearance of in people with Disease:Nasopharyngeal Neoplasms +827784603 rs4149118 SLCO1B3 docetaxel 21995462 Other, Metabolism/PK yes Significance as part of a haplotype with rs7311358, rs11045585 and rs3834935. Allele G is associated with decreased clearance of docetaxel in people with Nasopharyngeal Neoplasms. G Is Associated with decreased clearance of in people with Disease:Nasopharyngeal Neoplasms +1452582025 rs11212617 C11orf65 metformin 21186350 Efficacy not stated For the second replication set in the UK cohort (Prospective Diabetes (UKPDS) cohort), study genotyped the proxy SNP rs609261 (r2 = 0.997 with rs11212617 in 5,197 WTCCC2 controls) for technical reasons. Allele C is associated with increased clinical benefit to metformin in people with Diabetes Mellitus, Type 2 as compared to allele A. C Is Associated with increased clinical benefit to in people with Disease:Diabetes Mellitus, Type 2 A +1448635431 CYP3A5*1, CYP3A5*3 CYP3A5 tacrolimus 28603840 Metabolism/PK yes CYP3A5 *1A genotype was associated with lower trough tacrolimus concentrations (C0) (beta = (-1.739) (95% CI: (-2.517) – (-0.962); P <0.001)) and lower C0/dose ratios (beta = (-0.675) (95% CI: (-0.938) – (-0.412); P <0.001) CYP3A5 *1 is associated with decreased trough concentration of tacrolimus in people with Kidney Transplantation as compared to CYP3A5 *3. *1 Is Associated with decreased trough concentration of in people with Disease:Kidney Transplantation *3 +1448635420 CYP3A4*1, CYP3A4*22 CYP3A4 tacrolimus 28603840 Metabolism/PK no CYP3A4 *22 is not associated with trough concentration of tacrolimus in people with Kidney Transplantation as compared to CYP3A4 *1. *22 Is Not associated with trough concentration of in people with Disease:Kidney Transplantation *1 +1452140060 rs776746 CYP3A5 tacrolimus 37342387 Metabolism/PK yes "Alleles complemented to plus chromosomal strand. There were no *1/*1 (TT) observed. "" There was a significant difference when C/D ratios of homozygote CYP3A5 *3/*3 carriers were compared between 2 and 8 weeks""" Genotype CT is associated with decreased dose-adjusted trough concentrations of tacrolimus in people with Kidney Transplantation as compared to genotype CC. CT Is Associated with decreased dose-adjusted trough concentrations of in people with Other:Kidney Transplantation CC +1450928634 rs1799971 OPRM1 ethanol 28992386 Other no No significant main effect of this variant or interaction effect between this variant and social drinking condition on alcohol consumption in a controlled setting or blood alcohol content. Allele G is not associated with dose of ethanol as compared to allele A. G Is Not associated with dose of A +1451116340 rs4149056 SLCO1B1 lopinavir 32022294 Metabolism/PK yes Allele C is associated with increased trough concentration of lopinavir in people with HIV Infections as compared to allele T. C Is Associated with increased trough concentration of in people with Other:HIV infectious disease T +1451116362 rs11045819 SLCO1B1 lopinavir 32022294 Metabolism/PK no Although the A allele was initially found to be significantly associated with decreased trough concentrations of lopinavir, this significance was lost following multivariate regression analysis. Allele A is not associated with trough concentration of lopinavir in people with HIV Infections as compared to allele C. A Is Not associated with trough concentration of in people with Other:HIV infectious disease C +1451116369 rs4149032 SLCO1B1 lopinavir 32022294 Metabolism/PK no Although the T allele was initially found to be significantly associated with decreased trough concentrations of lopinavir, this significance was lost following multivariate regression analysis. Allele T is not associated with trough concentration of lopinavir in people with HIV Infections as compared to allele C. T Is Not associated with trough concentration of in people with Other:HIV infectious disease C +769247726 rs762551 CYP1A2 caffeine 10233211 Other, Metabolism/PK yes this was significant in smokers but not non-smokers. Genotype AA is associated with increased metabolism of caffeine as compared to genotype AC. AA Is Associated with increased metabolism of AC +1448104256 rs3745274 CYP2B6 efavirenz 27299708 Metabolism/PK yes Values of oral clearance were 10.2 L/h, 7.33 L/h and 2.38 L/h for GG, GT, and TT patients, respectively. Genotype GG is associated with increased clearance of efavirenz in people with HIV Infections as compared to genotypes GT + TT. GG Is Associated with increased clearance of in people with Disease:HIV infectious disease GT + TT +1452442404 CYP2A6*1, CYP2A6*41 CYP2A6 nicotine 24305170 Metabolism/PK yes Association with lower activity of the novel variant groups [CYP2A6*39 (V68M), CYP2A6*40 (I149M), CYP2A6*41 (R265Q; rs140471703), CYP2A6*42 (I268T), CYP2A6*43 (T303I), CYP2A6*44 (E390K; rs376817657), CYP2A6*44 (L462P)] was; tested using a one-way analysis of variance with Bonferroni tests used for post-hoc analysis, P<0.01. A comparison between CYP2A6*1/*1 and; the combined group was tested using an unpaired t-test, ***P<0.001 CYP2A6 *41 is associated with decreased metabolism of nicotine as compared to CYP2A6 *1. *41 Is Associated with decreased metabolism of *1 +1452442345 CYP2A6*1, CYP2A6*39 CYP2A6 nicotine 24305170 Metabolism/PK yes Association with lower activity of the novel variant groups [CYP2A6*39 (V68M; rs143690364), CYP2A6*40 (I149M), CYP2A6*41 (R265Q; rs140471703), CYP2A6*42 (I268T), CYP2A6*43 (T303I), CYP2A6*44 (E390K; rs376817657), CYP2A6*44 (L462P)] was; tested using a one-way analysis of variance with Bonferroni tests used for post-hoc analysis, P<0.01. A comparison between CYP2A6*1/*1 and; the combined group was tested using an unpaired t-test, ***P<0.001 CYP2A6 *39 is associated with decreased metabolism of nicotine as compared to CYP2A6 *1. *39 Is Associated with decreased metabolism of *1 +1183701942 rs376817657 CYP2A6 nicotine 24305170 Metabolism/PK yes Association with lower activity of the novel variant groups [CYP2A6*39 (V68M), CYP2A6*40 (I149M), CYP2A6*41 (R265Q), CYP2A6*42 (I268T), CYP2A6*43 (T303I), CYP2A6*44 (E390K; rs376817657), CYP2A6*44 (L462P)] was; tested using a one-way analysis of variance with Bonferroni tests used for post-hoc analysis, P<0.01. A comparison between CYP2A6*1/*1 and; the combined group was tested using an unpaired t-test, ***P<0.001 Genotypes CT + TT is associated with decreased metabolism of nicotine as compared to genotype CC. CT + TT Is Associated with decreased metabolism of CC +1452535905 UGT1A4*3b UGT1A4 lamotrigine 39024362 Efficacy yes """Only three studies [28, 29], involving 308 patients, reported the therapeutic efficacy of LTG based on UGT1A4*3 polymorphism. No statistical heterogeneity existed among the article results (I 2 = 0%). There was significant difference between individuals with TT genotype and the control group in the therapeutic effect of LTG (OR: 7.18, 95% [4.01, 12.83], P<0.00001) (Fig 4). The results indicated that the therapeutic effect of LTG with TT genotype was better than that with TG/GG."" Mapped *3 to *3b since appears to be based on one SNP whereas 3a has 3 SNPs. *3b is rs2011425 G, with the reference T at that locus." UGT1A4 *3b is associated with decreased clinical benefit to lamotrigine. *3b Is Associated with decreased clinical benefit to +1444693787 rs1799724 TNF adalimumab 17673491 Efficacy yes When in a haplotype with rs1800629 and rs361525. Response defined as a 50% percent response to adalimumab therapy according to the American College of Rheumatology criteria (ACR50 responders) at week 12 after treatment initiation. Those homozygous for the GGC (rs361525-rs1800629-rs1799724) haplotype had a significantly lower ACR50 response rate as compared to subjects with any other diplotype (see paper for diplotypes present in population). This effect was more important in a subgroup of patients receiving concomitant methotrexate. Genotype CC is associated with decreased response to adalimumab in people with Arthritis, Rheumatoid. CC Is Associated with decreased response to in people with Disease:Rheumatoid arthritis +1444693781 rs361525 TNF adalimumab 17673491 Efficacy no No significant difference in genotype frequencies was seen between those who were responders to treatment and those who were non-responders. Response defined as a 50% percent response to adalimumab therapy according to the American College of Rheumatology criteria (ACR50 responders) at week 12 after treatment initiation. Genotype GG is not associated with response to adalimumab in people with Arthritis, Rheumatoid as compared to genotypes AA + AG. GG Is Not associated with response to in people with Disease:Rheumatoid arthritis AA + AG +1444693800 rs1800629 TNF adalimumab 17673491 Efficacy yes When in a haplotype with rs1799724 and rs361525. Response defined as a 50% percent response to adalimumab therapy according to the American College of Rheumatology criteria (ACR50 responders) at week 12 after treatment initiation. Those homozygous for the GGC (rs361525-rs1800629-rs1799724) haplotype had a significantly lower ACR50 response rate as compared to subjects with any other diplotype (see paper for diplotypes present in population). This effect was more important in a subgroup of patients receiving concomitant methotrexate. Genotype GG is associated with decreased response to adalimumab in people with Arthritis, Rheumatoid. GG Is Associated with decreased response to in people with Disease:Rheumatoid arthritis +1444693810 rs361525 TNF adalimumab 17673491 Efficacy yes When in a haplotype with rs1800629 and rs1799724. Response defined as a 50% percent response to adalimumab therapy according to the American College of Rheumatology criteria (ACR50 responders) at week 12 after treatment initiation. Those homozygous for the GGC (rs361525-rs1800629-rs1799724) haplotype had a significantly lower ACR50 response rate as compared to subjects with any other diplotype (see paper for diplotypes present in population). This effect was more important in a subgroup of patients receiving concomitant methotrexate. Genotype GG is associated with decreased response to adalimumab in people with Arthritis, Rheumatoid. GG Is Associated with decreased response to in people with Disease:Rheumatoid arthritis +1444693768 rs1799724 TNF adalimumab 17673491 Efficacy no No significant difference in genotype frequencies was seen between those who were responders to treatment and those who were non-responders. Response defined as a 50% percent response to adalimumab therapy according to the American College of Rheumatology criteria (ACR50 responders) at week 12 after treatment initiation. Genotype CC is not associated with response to adalimumab in people with Arthritis, Rheumatoid as compared to genotypes CT + TT. CC Is Not associated with response to in people with Disease:Rheumatoid arthritis CT + TT +1444693775 rs1800629 TNF adalimumab 17673491 Efficacy no No significant difference in genotype frequencies was seen between those who were responders to treatment and those who were non-responders. Response defined as a 50% percent response to adalimumab therapy according to the American College of Rheumatology criteria (ACR50 responders) at week 12 after treatment initiation. Genotype GG is not associated with response to adalimumab in people with Arthritis, Rheumatoid as compared to genotypes AA + AG. GG Is Not associated with response to in people with Disease:Rheumatoid arthritis AA + AG +769245465 rs4244285 CYP2C19 aspirin, clopidogrel 21392617 Efficacy yes The prevalence of High Platelet Reactivity (HPR) was higher in (AA + AG) compared to GG, but the template doesn't accommodate this. *2 SNP. [stat_test: chi-square] Allele A is associated with decreased response to aspirin and clopidogrel in people with Coronary Artery Disease as compared to allele G. A Is Associated with decreased response to and in people with Disease:Coronary Artery Disease G +769245468 rs12248560 CYP2C19 aspirin, clopidogrel 21392617 yes For 20 microMolar ADP-induced platelet aggregation, the prevalence of High Platelet Reactivity (HPR) was lower in (TT +TC) vs CC, but the template doesn't accommodate this. *17 SNP. For 5 microMolar ADP-induced platelet aggregation, the association was NOT significant ( p = 0.32). [stat_test: chi-square] Allele T is associated with increased response to aspirin and clopidogrel in people with Coronary Artery Disease as compared to allele C. T Is Associated with increased response to and in people with Disease:Coronary Artery Disease C +769245428 rs4244285 CYP2C19 aspirin 21392617 Efficacy not stated Aspirin 81-325 mg/d for at least 2 weeks. ADP-induced ex vivo platelet aggregation was measured. *2 SNP. Comparison was between A carriers and non-carriers. [stat_test: chi-square] Allele A is not associated with decreased response to aspirin in people with Coronary Artery Disease as compared to allele G. A Is Not associated with decreased response to in people with Disease:Coronary Artery Disease G +769245444 rs12248560 CYP2C19 aspirin 21392617 Efficacy no Aspirin 81-325 mg/d for at least 2 weeks. ADP-induced ex vivo platelet aggregation was measured. *17 SNP. Comparison was between T carriers and non-carriers. [stat_test: chi-square] Allele T is not associated with increased response to aspirin in people with Coronary Artery Disease as compared to allele C. T Is Not associated with increased response to in people with Disease:Coronary Artery Disease C +769245459 rs12248560 CYP2C19 aspirin, clopidogrel 21392617 Efficacy no These patients had coronary arterial stenting. Comparison was T carriers (TT + CT) vs non-carriers (CC) but the template doesn't accommodate this choice. *17 SNP. ADP-induced ex vivo platelet aggregation was measured. [stat_test: chi-square] Allele T is not associated with increased response to aspirin and clopidogrel in people with Coronary Artery Disease. T Is Not associated with increased response to and in people with Disease:Coronary Artery Disease +769245456 rs4244285 CYP2C19 aspirin, clopidogrel 21392617 Efficacy yes These patients had coronary arterial stenting. The comparison was that ADP-induced ex vivo platelet aggregation was higher in (AA + AG) compared to GG, but the template does not accommodate this. *2 SNP. [stat_test: chi-square] Allele A is associated with decreased response to aspirin and clopidogrel in people with Coronary Artery Disease as compared to allele G. A Is Associated with decreased response to and in people with Disease:Coronary Artery Disease G +1452840820 rs2108622 CYP4F2 warfarin 39896937 Dosage yes """The Kruskal–Wallis test on genotype showed a p-value of 0.02 (<0.05), suggesting that the CC, CT, and TT genotypes have a significant association with warfarin dosage. "" ""Dosing based on the CYP4F2 rs2108622 genetic polymorphism showed that patients with CC, CT, and TT genotypes required doses of 19 mg, 21 mg, and 33 mg, respectively. """ Allele T is associated with increased dose of warfarin in people with Rheumatic Heart Disease, Atrial Fibrillation, Heart Valve Diseases or Coronary Artery Disease. T Is Associated with increased dose of in people with Other:Rheumatic Heart Disease, Other:Atrial Fibrillation, Other:Heart Valve Diseases, Other:Coronary Artery Disease or +1451347680 rs16969968 CHRNA5 nicotine 32602170 Efficacy yes compared to placebo. In African American smokers, combination nicotine replacement therapy (patch and lozenge) was more effective in smokers with rs16969968 GG genotype than was placebo. There was no significant genotype-by-treatment interaction in smokers of European ancestry. Genotype GG is associated with increased response to nicotine in people with Tobacco Use Disorder. GG Is Associated with increased response to in people with Other:Tobacco Use Disorder +1451347701 rs16969968 CHRNA5 varenicline 32602170 Efficacy yes compared to placebo. In African American smokers, varenicline was more effective in smokers of GA/AA genotypes vs. placebo. There was no significant genotype-by-treatment interaction in smokers of European ancestry. Genotypes AA + AG are associated with increased response to varenicline in people with Tobacco Use Disorder. AA + AG Are Associated with increased response to in people with Other:Tobacco Use Disorder +1444842390 rs699947 VEGFA bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin, oxaliplatin 25955730 Efficacy yes Response to treatment was determined by RECIST criteria. Genotype CC is associated with increased response to bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin and oxaliplatin in people with Colorectal Neoplasms as compared to genotype AC. CC Is Associated with increased response to and in people with Disease:Colorectal Neoplasms AC +1444842399 rs2010963 VEGFA bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin, oxaliplatin 25955730 Efficacy no Response was determined by RECIST criteria. In a subgroup analysis excluding the use of anti-angiogenic agents (e.g. bevacuzimab) no significant association was found for any genotypes and response to chemotherapy. Allele G is not associated with response to bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin and oxaliplatin in people with Colorectal Neoplasms as compared to allele C. G Is Not associated with response to and in people with Disease:Colorectal Neoplasms C +1444842405 rs833061 VEGFA bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin, oxaliplatin 25955730 Efficacy no Response was determined by RECIST criteria. In a subgroup analysis excluding the use of anti-angiogenic agents (e.g. bevacuzimab) no significant association was found for any genotypes and response to chemotherapy. Allele C is not associated with response to bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin and oxaliplatin in people with Colorectal Neoplasms as compared to allele T. C Is Not associated with response to and in people with Disease:Colorectal Neoplasms T +1444842369 rs3025039 VEGFA bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin, oxaliplatin 25955730 Efficacy yes Response to treatment was determined by RECIST criteria. Genotype TT is associated with decreased response to bevacizumab, capecitabine, fluorouracil, irinotecan, leucovorin and oxaliplatin in people with Colorectal Neoplasms as compared to genotypes CC + CT. TT Is Associated with decreased response to and in people with Disease:Colorectal Neoplasms CC + CT +1449005291 CYP2C9*1, CYP2C9*2, CYP2C9*3 CYP2C9 warfarin 28689179 Dosage yes "CYP2C9 and VKORC1 variants are analyzed together to divide patients into three warfarin sensitivity types (normal, sensitive and highly sensitive). ""Warfarin sensitive and highly sensitive responders had heparin therapy discontinued earlier (p<0.001), had a decreased final weekly warfarin dose (p<0.001), spent more time over-anticoagulated (p<0.001) and had an increased bleeding risk with warfarin (sensitive responders HR 1.38 [95% CI 1.11 to 1.71], p=0.0035; highly sensitive responders 1.79 [1.09 to 2.99]; p=0.0252).""" CYP2C9 *2 + *3 are associated with decreased dose of warfarin in people with venous thromboembolism as compared to CYP2C9 *1/*1. *2 + *3 Are Associated with decreased dose of in people with Disease:Venous thromboembolism *1/*1 +1449005283 rs9923231 VKORC1 warfarin 28689179 Dosage yes "CYP2C9 and VKORC1 variants are analyzed together to divide patients into three warfarin sensitivity types (normal, sensitive and highly sensitive). ""Warfarin sensitive and highly sensitive responders had heparin therapy discontinued earlier (p<0.001), had a decreased final weekly warfarin dose (p<0.001), spent more time over-anticoagulated (p<0.001) and had an increased bleeding risk with warfarin (sensitive responders HR 1.38 [95% CI 1.11 to 1.71], p=0.0035; highly sensitive responders 1.79 [1.09 to 2.99]; p=0.0252).""" Genotype TT is associated with decreased dose of warfarin in people with venous thromboembolism as compared to genotype CC. TT Is Associated with decreased dose of in people with Disease:Venous thromboembolism CC +1448997108 rs3745274 CYP2B6 efavirenz 26831894 Metabolism/PK no Genotypes GT + TT are associated with increased concentrations of efavirenz in children with HIV Infections as compared to genotype GG. GT + TT Pediatric Are Associated with increased concentrations of in children with Disease:HIV infectious disease GG +1444703466 rs2231142 ABCG2 allopurinol 25676789 Efficacy yes "The authors designated ""response to allopurinol"" as a reduction of serum uric acid levels to below 6 mg/dL. Mean age was 68 years, 75% were male. The elevated mean baseline SUA before treatment was 8.9 mg/dL. No other SNPs reached genome wide significance." Allele T is associated with decreased response to allopurinol in people with Gout as compared to allele G. T Is Associated with decreased response to in people with Disease:Gout G +1184514690 rs776746 CYP3A5 tacrolimus 22992768 Dosage, Metabolism/PK yes After 4 months post-transplantation, C/D ratios of donor CYP3A5 expresser were lower than those of nonexpresser regardless of recipients' genotype. Given the same donor genotype, C/D ratios of recipient CYP3A5 expresser were lower than those of nonexpresser. C/D is the ratio of blood concentration/dose. Genotypes CT + TT are associated with increased dose of tacrolimus in people with liver transplantation as compared to genotype CC. CT + TT Are Associated with increased dose of in people with Disease:Liver transplantation CC +1449001719 rs11942223 SLC2A9 furosemide 28951782 Efficacy no There was no difference in either the absolute values of serum urate, nor in fractiona excretion of uric acid over the study period between those carrying the C allele versus those that did not. Allele C is not associated with response to furosemide in healthy individuals as compared to allele T. C Is Not associated with response to in healthy individuals T +1449001741 rs2078267 SLC22A11 furosemide 28951782 Efficacy no There was no difference in the absolute values of serum urate over the study period between those carrying the C allele versus those that did not. Allele T is not associated with response to furosemide in healthy individuals as compared to allele C. T Is Not associated with response to in healthy individuals C +827864486 rs2230345 GRK5 Beta Blocking Agents 18425130 Efficacy not stated P value is comparing with and without drug, not genotypes. When not treated with beta blockers patients with GRK-Q41 have increased risk of death or transplantation compared to patients with GRK-L41. When treated with beta blockers patients with GRK-Q41 showed improvements with beta blockers that brought the Kaplan Meier curve up to the same as that for GRK-L41. When treated with beta blockers patients with the GRK-L41 (TT) did not show any change in outcome. Genotypes AA + AT are associated with response to Beta Blocking Agents in people with Heart Failure as compared to genotype TT. AA + AT Are Associated with response to in people with Disease:Heart Failure TT +1452485100 CYP2C19*1, CYP2C19*2, CYP2C19*4, CYP2C19*8, CYP2C19*11 CYP2C19 atorvastatin 38791422 Efficacy yes """Carriers of the CYP2C19*2, CYP2C19*4, and CYP2C19*8 alleles were considered poor metabolizers, while all other patients were considered normal metabolizers."" ""The multivariable logistic regression model showed (Table 5) that poor CYP2C19 metabolizing phenotype, patient age, and smoking increased the odds of undertreatment in patients (∆LDL-C (mmol/L) < 1) who received standard atorvastatin cholesterol-lowering therapy.""" CYP2C19 *2 + *4 + *8 (assigned as poor metabolizer phenotype) is associated with decreased clinical benefit to atorvastatin in people with Cardiovascular Diseases as compared to CYP2C19 *1 + *11. *2 + *4 + *8 poor metabolizer Is Associated with decreased clinical benefit to in people with Other:Cardiovascular Disease *1 + *11 +1452141740 rs114087210 KCNA3 dexmedetomidine 37353859 Metabolism/PK no "Data from Table S2, direction of effect and risk allele not clear. Minor allele and frequency stated. Mapped to dbSNP using genomic location 1:111239222:A:G on hg19/GRCh37. ""GWAS failed to identify any variants meeting the genome-wide statistical significance threshold of 5 × 10−8"" This is top scoring variant." Allele A is associated with decreased clearance of dexmedetomidine in children with Pain, Postoperative as compared to allele G. A Pediatric Is Associated with decreased clearance of in children with Other:Pain, Postoperative G +1452141880 rs560765906 CACNB2 dexmedetomidine 37353859 Metabolism/PK no "Data from Table S2, direction of effect and risk allele not clear. Minor allele and frequency stated. Mapped to dbSNP using genomic location 10:18437025:A:T on hg19/GRCh37. ""GWAS failed to identify any variants meeting the genome-wide statistical significance threshold of 5 × 10−8"" This is second highest scoring variant." Allele T is associated with decreased clearance of dexmedetomidine in children with Pain, Postoperative as compared to allele A. T Pediatric Is Associated with decreased clearance of in children with Other:Pain, Postoperative A +1452141960 rs111860321 CPPED1 fentanyl 37353859 Metabolism/PK no "Data from Table S3, direction of effect and risk allele not clear. Minor allele and frequency stated. Mapped to dbSNP using genomic location 16:12920566:C:T on hg19/GRCh37. ""GWAS failed to identify any variants meeting the genome-wide statistical significance threshold of 5 × 10−8"" This is top scoring variant." Allele C is associated with decreased clearance of fentanyl in children with Pain, Postoperative as compared to allele T. C Pediatric Is Associated with decreased clearance of in children with Other:Pain, Postoperative T +1447984307 rs4803381 CYP2A6 bupropion, Drugs used in nicotine dependence 26132489 Efficacy yes The T allele was nominally significantly associated with six month abstinence in one arm of 66 individuals first treated with combined nicotine replacement therapy (NRT) and bupropion from baseline to 12 weeks and then randomized to chronic bupropion (P = 0.023). Allele T is associated with increased response to bupropion and Drugs used in nicotine dependence in people with Tobacco Use Disorder as compared to allele C. T Is Associated with increased response to and in people with Disease:Tobacco Use Disorder C +1447984301 rs1137115 CYP2A6 nicotine 26132489 Metabolism/PK no In the discovery stage: Participants derived from 1) the PKTWIN study and 2) the SMOFAM studyBoth were assessed for nicotine metabolite ratio (NMR) which was used as a biomarker of CYP2A6 activity. Nominally significant SNPs in the discovery stage were tested in the validation stage. Validation stage participants were self-identified White participants from 8 clinical trials of smoking cessation therapies conducted in six US sites. Allele C is not associated with metabolism of nicotine as compared to allele T. C Is Not associated with metabolism of T +1447984289 rs4803381 CYP2A6 nicotine 26132489 Metabolism/PK yes In the discovery stage: Participants derived from 1) the PKTWIN study and 2) the SMOFAM studyBoth were assessed for nicotine metabolite ratio (NMR) which was used as a biomarker of CYP2A6 activity. Nominally significant SNPs in the discovery stage were tested in the validation stage. Validation stage participants were self-identified White participants from 8 clinical trials of smoking cessation therapies conducted in six US sites. Allele T is associated with decreased metabolism of nicotine as compared to allele C. T Is Associated with decreased metabolism of C +1452497240 rs776746 CYP3A5 tacrolimus 38835664 Efficacy yes """The meta-analysis results showed that at ≤1 month [SMD = −1.93, 95% CI (−2.79, −1.08), p < 0.001], 1–6 months [SMD = −2.25, 95% CI (−2.71, −1.79), p < 0.001], and ≥6 months [SMD = −2.36, 95% CI (−2.86, −1.86), p < 0.001], the TAC C0/D levels of CYP3A5 expressers in MN patients were lower than those of CYP3A5 non-expressers (Figure 3)."" ""AA + AG genotype (referred to as expressers) and the GG genotype (referred to as non-expressers)""" Genotypes CT + TT is associated with decreased dose-adjusted trough concentrations of tacrolimus in people with Glomerulonephritis, Membranous as compared to genotype CC. CT + TT Is Associated with decreased dose-adjusted trough concentrations of in people with Other:Glomerulonephritis, Membranous CC +1452497160 rs776746 CYP3A5 tacrolimus 38835664 Efficacy no """The results showed that at 3 months [OR = 0.98, 95% CI (0.55, 1.76), p = 0.949], 6 months [OR = 1.14, 95% CI (0.84, 1.56), p = 0.401], and 12 months [OR = 1.20, 95% CI (0.66, 2.21), p = 0.551], the remission rates of expressers were higher than those of non-expressers, but there was no statistically significant difference between the two groups (p > 0.05) (Figure 4)."" ""AA + AG genotype (referred to as expressers) and the GG genotype (referred to as non-expressers)""" Genotypes CT + TT is associated with increased clinical benefit to tacrolimus in people with Glomerulonephritis, Membranous as compared to genotype CC. CT + TT Is Associated with increased clinical benefit to in people with Other:Glomerulonephritis, Membranous CC +1448601760 CYP2A6*1, CYP2A6*46 CYP2A6 nicotine 28181923 Metabolism/PK yes Study was among smokers. Please note that the *46 allele is described as the *1B1 allele in the paper and has subsequently been reassigned by PharmVar. CYP2A6 *46/*46 is associated with increased metabolism of nicotine in healthy individuals as compared to CYP2A6 *1/*1. *46/*46 Is Associated with increased metabolism of in healthy individuals *1/*1 +769259039 rs28365062 UGT2B7 zidovudine 19628728 Metabolism/PK yes The G allele carriers had 57% lower mean AUC (P = .029, unpaired t test), 196% higher mean CL/F (P = .004, unpaired t test; Figure 3B), and 67% shorter mean elimination half-life (P = .030, unpaired t test) compared with A allele carriers Allele G is associated with increased metabolism of zidovudine as compared to allele A. G Is Associated with increased metabolism of A +1449716717 rs2242480 CYP3A4 sufentanil 28121959 Dosage no The publication reports the finding for CYP3A4*1G. PharmVar re-assigned CYP3A4*1G to CYP3A4*36. Previously, this annotation used CYP3A4*36 which has been retired by PharmVar. All references to *36 have been replaced by rs2242480 alleles. Genotypes C/T + T/T is associated with decreased dose of sufentanil in people with Pain, Postoperative as compared to genotype C/C. C/T + T/T Is Associated with decreased dose of in people with Disease:Pain, Postoperative C/C +1449295791 rs254271 PRPF31 metformin 29650774 Efficacy yes This SNP is associated with changes in HbA1C when all races are combined. Allele C is associated with decreased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele G. C Is Associated with decreased response to in people with Disease:Diabetes Mellitus, Type 2 G +1449295782 rs57081354 NBEA metformin 29650774 Efficacy yes This SNP is associated with changes in HbA1C when all races are combined. Allele C is associated with decreased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele T. C Is Associated with decreased response to in people with Disease:Diabetes Mellitus, Type 2 T +1449295802 rs2162145 CPA6 metformin 29650774 Efficacy yes This SNP is associated with changes in HbA1C in white patients. Allele T is associated with increased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C. T Is Associated with increased response to in people with Disease:Diabetes Mellitus, Type 2 C +1448099841 rs5985 F13A1 Photodynamic therapy 26307969 Efficacy yes Alleles given as reverse strand T and G. Change in measured best-correct visual acuity after 2 years of treatment. Genotypes AA + AC are associated with decreased response to photodynamic therapy in people with Choroidal Neovascularization as compared to genotype CC. AA + AC Are Associated with decreased response to in people with Disease:Choroidal Neovascularization CC +982034970 rs56165452 CYP2C9 warfarin 21228733 Dosage yes This SNP defines CYP2C9*4. CYP2C9 *2,*3,*4,*5,*8 were grouped into three groups for testing: *1/*1 vs. *1/*2 + *1/*3 + *1/*4 + *1/*5 + *1/*8 vs *2/*2 + *2/*3 + *3/*3 + *5/*5. People having one or two variant alleles had lower dose requirements than people who were *1/*1. Genotype CT is associated with decreased dose of warfarin as compared to genotype TT. CT Is Associated with decreased dose of TT +827864546 rs1799853 CYP2C9 warfarin 21228733 Dosage yes This SNP defines CYP2C9*2. CYP2C9 *2,*3,*4,*5,*8 were grouped into three groups for testing: *1/*1 vs. *1/*2 + *1/*3 + *1/*4 + *1/*5 + *1/*8 vs *2/*2 + *2/*3 + *3/*3 + *5/*5. People having one or two variant alleles had lower dose requirements than people who were *1/*1. Allele T is associated with decreased dose of warfarin as compared to allele C. T Is Associated with decreased dose of C +827864548 rs7900194 CYP2C9 warfarin 21228733 Dosage yes This SNP defines CYP2C9*8. CYP2C9 *2,*3,*4,*5,*8 were grouped into three groups for testing: *1/*1 vs. *1/*2 + *1/*3 + *1/*4 + *1/*5 + *1/*8 vs *2/*2 + *2/*3 + *3/*3 + *5/*5. People having one or two variant alleles had lower dose requirements than people who were *1/*1. Allele A is associated with decreased dose of warfarin as compared to allele G. A Is Associated with decreased dose of G +827864550 rs339097 CALU warfarin 21228733 Dosage no A p value of 0.04 was given for dose- genotype association, but the authors stated that this association did not reach significanc in multiple regression testing (p = 0.066), and that was likely due to insufficient power.Variant allele carriers required 14.1 mg/week more warfarin than AA. Genotypes AG + GG are associated with increased dose of warfarin as compared to genotype AA. AG + GG Are Associated with increased dose of AA +827864552 rs9923231 VKORC1 warfarin 21228733 Dosage yes Genotypes CT + TT are associated with decreased dose of warfarin as compared to genotype CC. CT + TT Are Associated with decreased dose of CC +827864554 rs28371686 CYP2C9 warfarin 21228733 Dosage yes This SNP defines CYP2C9*5. CYP2C9 *2,*3,*4,*5,*8 were grouped into three groups for testing: *1/*1 vs. *1/*2 + *1/*3 + *1/*4 + *1/*5 + *1/*8 vs *2/*2 + *2/*3 + *3/*3 + *5/*5. People having one or two variant alleles had lower dose requirements than people who were *1/*1. Allele G is associated with decreased dose of warfarin as compared to allele C. G Is Associated with decreased dose of C +827864556 rs429358 APOC1, APOE warfarin 21228733 Dosage yes Allele T is associated with decreased dose of warfarin in people with haplotype epsilon2. T Is Associated with decreased dose of in people with Other:haplotype epsilon2 +827864558 rs2108622 CYP4F2 warfarin 21228733 no "A significant association between genotype and dose was not found in this study; however, the trend for this association ""was consistent with the literature""." Allele C is not associated with decreased dose of warfarin as compared to allele T. C Is Not associated with decreased dose of T +827864560 rs7412 APOC1, APOE warfarin 21228733 Dosage yes Allele T is associated with decreased dose of warfarin in people with haplotype epsilon2. T Is Associated with decreased dose of in people with Other:haplotype epsilon2 +827864562 rs1057910 CYP2C9 warfarin 21228733 Dosage yes This SNP defines CYP2C9*3. CYP2C9 *2,*3,*4,*5,*8 were grouped into three groups for testing: *1/*1 vs. *1/*2 + *1/*3 + *1/*4 + *1/*5 + *1/*8 vs *2/*2 + *2/*3 + *3/*3 + *5/*5. People having one or two variant alleles had lower dose requirements than people who were *1/*1. Allele C is associated with decreased dose of warfarin as compared to allele A. C Is Associated with decreased dose of A +982037995 rs662799 APOA5 fenofibrate 19057464 Efficacy no No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Genotypes AG + GG are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype AA. AG + GG Are Not associated with response to in people with Disease:Hypertriglyceridemia AA +982037980 rs3135506 APOA5 fenofibrate 19057464 Efficacy yes Carriers of the C allele had greater decreases in plasma triglyceride (TG) and high-density lipoprotein (HDL) levels over 3 weeks of treatment, as compared to GG homozygotes. Genotypes CC + CG are associated with increased response to fenofibrate in people with Hypertriglyceridemia as compared to genotype GG. CC + CG Are Associated with increased response to in people with Disease:Hypertriglyceridemia GG +982038027 rs675 APOA4 fenofibrate 19057464 Efficacy no No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Genotypes AA + AT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype TT. AA + AT Are Not associated with response to in people with Disease:Hypertriglyceridemia TT +982038004 rs1263177 APOA4 fenofibrate 19057464 Efficacy no No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Genotypes CC + CT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype TT. CC + CT Are Not associated with response to in people with Disease:Hypertriglyceridemia TT +982038053 rs5090 APOA4 fenofibrate 19057464 Efficacy no No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Genotype CG is not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype GG. CG Is Not associated with response to in people with Disease:Hypertriglyceridemia GG +982038060 rs2542051 APOC3 fenofibrate 19057464 Efficacy no No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Genotypes AC + CC are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype AA. AC + CC Are Not associated with response to in people with Disease:Hypertriglyceridemia AA +982038036 rs5104 APOA4 fenofibrate 19057464 Efficacy no No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Please note alleles have been complemented to the plus chromosomal strand. Genotypes CC + CT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype TT. CC + CT Are Not associated with response to in people with Disease:Hypertriglyceridemia TT +982038045 rs5092 APOA4 fenofibrate 19057464 Efficacy no No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Please note alleles have been complemented to the plus chromosomal strand. Genotypes CC + CT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype TT. CC + CT Are Not associated with response to in people with Disease:Hypertriglyceridemia TT +982038089 rs4520 APOC3 fenofibrate 19057464 Efficacy no No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Genotypes CT + TT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype CC. CT + TT Are Not associated with response to in people with Disease:Hypertriglyceridemia CC +982038097 rs5128 APOC3 fenofibrate 19057464 Efficacy no No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Genotypes CC + CG are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype GG. CC + CG Are Not associated with response to in people with Disease:Hypertriglyceridemia GG +982038068 rs2542052 APOC3 fenofibrate 19057464 Efficacy no No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Genotypes AA + AC are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype CC. AA + AC Are Not associated with response to in people with Disease:Hypertriglyceridemia CC +982038075 rs2854117 APOC3 fenofibrate 19057464 Efficacy no No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Please note alleles have been complemented to the plus chromosomal strand. Genotypes CT + TT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype CC. CT + TT Are Not associated with response to in people with Disease:Hypertriglyceridemia CC +982038082 rs2854116 APOC3 fenofibrate 19057464 Efficacy no No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Please note alleles have been complemented to the plus chromosomal strand. Genotypes CC + CT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype TT. CC + CT Are Not associated with response to in people with Disease:Hypertriglyceridemia TT +982038119 rs2727784 APOA1 fenofibrate 19057464 Efficacy no No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Please note alleles have been complemented to the plus chromosomal strand. Genotypes CC + CT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype TT. CC + CT Are Not associated with response to in people with Disease:Hypertriglyceridemia TT +982038126 rs11216158 APOA1 fenofibrate 19057464 Efficacy no No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Genotypes AA + AG are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype GG. AA + AG Are Not associated with response to in people with Disease:Hypertriglyceridemia GG +982038105 rs670 APOA1 fenofibrate 19057464 Efficacy no No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Please note alleles have been complemented to the plus chromosomal strand. Genotypes CT + TT are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype CC. CT + TT Are Not associated with response to in people with Disease:Hypertriglyceridemia CC +982038112 rs613808 APOA1 fenofibrate 19057464 Efficacy no No significant difference in the change in plasma triglyceride (TG) or high-density lipoprotein (HDL) levels between genotypes was seen, after three weeks of treatment with fenofibrate. Genotypes AA + AG are not associated with response to fenofibrate in people with Hypertriglyceridemia as compared to genotype GG. AA + AG Are Not associated with response to in people with Disease:Hypertriglyceridemia GG +1185235201 UGT1A1*1, UGT1A1*28 UGT1A1 irinotecan 24958824 Metabolism/PK no No significant difference in dose-adjusted irinotecan area under the plasma concentration-time curve (AUC) was seen between the two genotype groups. UGT1A1 *1/*28 + *28/*28 is not associated with concentrations of irinotecan in people with Neoplasms as compared to UGT1A1 *1/*1. *1/*28 + *28/*28 Is Not associated with concentrations of in people with Disease:Neoplasms *1/*1 +1185235188 UGT1A1*1, UGT1A1*28 UGT1A1 SN-38 24958824 Metabolism/PK yes The dose-adjusted area under the concentration-time curve (AUC) of SN-38 is increased in patients with the *1/*28 or *28/*28 genotype as compared to those with the *1/*1 genotype. UGT1A1 *1/*28 + *28/*28 is associated with increased concentrations of SN-38 in people with Neoplasms as compared to UGT1A1 *1/*1. *1/*28 + *28/*28 Is Associated with increased concentrations of in people with Disease:Neoplasms *1/*1 +827849230 rs3745274 CYP2B6 nevirapine 21393201 Toxicity, Metabolism/PK yes Genotype TT is associated with decreased clearance of nevirapine in children with HIV Infections as compared to genotypes GG + GT. TT Pediatric Is Associated with decreased clearance of in children with Disease:HIV infectious disease GG + GT +1445297172 rs1045642 ABCB1 doxorubicin, methotrexate, prednisolone, vincristine 25582575 Efficacy yes The risk of relapse was reduced for those with the AA genotype as compared to those with the GG genotype. Multivariate analysis adjusted for risk, immunophenotype, protocol and gender. Please note that alleles have been complemented to the plus chromosomal strand. Genotype AA is associated with decreased resistance to doxorubicin, methotrexate, prednisolone and vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype GG. AA Pediatric Is Associated with decreased resistance to and in children with Disease:Acute lymphoblastic leukemia GG +1445297161 rs2229109 ABCB1 doxorubicin, methotrexate, prednisolone, vincristine 25582575 Efficacy yes In children with high-risk acute lymphoblastic leukemia (ALL; see paper for definition of high risk); no significant results seen for children with low-risk ALL. Risk of relapse was approximately 4-fold greater for those with the CT genotype as compared to those with the CC genotype. Multivariate analysis adjusted for protocol, gender and immunophenotype. Please note that alleles have been complemented to the plus chromosomal strand. Genotype CT is associated with increased resistance to doxorubicin, methotrexate, prednisolone and vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype CC. CT Pediatric Is Associated with increased resistance to and in children with Disease:Acute lymphoblastic leukemia CC +1445297279 rs1128503 ABCB1 doxorubicin, methotrexate, prednisolone, vincristine 25582575 Efficacy no No statistically significant differences in relapse risk were found between the alleles or genotypes of rs1128503. Please note that alleles have been complemented to the plus chromosomal strand. Allele A is not associated with resistance to doxorubicin, methotrexate, prednisolone and vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele G. A Pediatric Is Not associated with resistance to and in children with Disease:Acute lymphoblastic leukemia G +1445297288 rs2032582 ABCB1 doxorubicin, methotrexate, prednisolone, vincristine 25582575 Efficacy no No statistically significant differences in relapse risk were found between the alleles or genotypes of rs2032582 G>A/T. Please note that alleles have been complemented to the plus chromosomal strand. Allele A is not associated with resistance to doxorubicin, methotrexate, prednisolone and vincristine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele C. A Pediatric Is Not associated with resistance to and in children with Disease:Acute lymphoblastic leukemia C +1451503688 rs2266780 FMO3 teneligliptin 34512362 Metabolism/PK yes effect described for (rs2266780/rs2266782). Significant for clearance, Cmax, and AUC. Genotypes AG + GG is associated with decreased clearance of teneligliptin in men as compared to genotype AA. AG + GG Is Associated with decreased clearance of in men AA +1451503700 rs909530 FMO3 teneligliptin 34512362 Metabolism/PK yes Alleles complemented to plus chromosomal strand. Significant for clearance, Cmax, and AUC. Genotypes CT + TT is associated with decreased clearance of teneligliptin in men as compared to genotype CC. CT + TT Is Associated with decreased clearance of in men CC +1451503720 rs2266782 FMO3 teneligliptin 34512362 Metabolism/PK yes effect described for (rs2266780/rs2266782). Significant for clearance, Cmax, and AUC. Genotypes AG + GG is associated with decreased clearance of teneligliptin in men as compared to genotype AA. AG + GG Is Associated with decreased clearance of in men AA +1451503760 rs2242480 CYP3A4 teneligliptin 34512362 Metabolism/PK yes Alleles complemented to plus chromosomal strand. Significant only for Cmax, not for AUC or CL/F. Genotypes CT + TT is associated with decreased concentrations of teneligliptin in men as compared to genotype CC. CT + TT Is Associated with decreased concentrations of in men CC +1451672684 rs571335587 CYP2A6 nicotine 34476898 Metabolism/PK not stated Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. Please note that alleles have been complemented to the positive strand. Allele A is associated with decreased metabolism of nicotine as compared to allele C. A Is Associated with decreased metabolism of C +1451667320 rs28399454 CYP2A6 nicotine 34476898 Metabolism/PK not stated Assigned as decreased function following in vitro assessments, in vivo associations and variant construct functional assignments. Please note that alleles have been complemented to the positive strand. This is the defining allele of the CYP2A6*17 allele. Allele T is associated with decreased metabolism of nicotine as compared to allele C. T Is Associated with decreased metabolism of C +1451672860 rs140471703 CYP2A6 nicotine 34476898 Metabolism/PK not stated Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. This is the defining SNP of the CYP2A6*41 allele. Allele T is associated with decreased metabolism of nicotine as compared to allele C. T Is Associated with decreased metabolism of C +1451672680 rs199515342 CYP2A6 nicotine 34476898 Metabolism/PK not stated Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. Please note that alleles have been complemented to the positive strand. Allele A is associated with decreased metabolism of nicotine as compared to allele G. A Is Associated with decreased metabolism of G +1451672700 rs61605570 CYP2A6 nicotine 34476898 Metabolism/PK not stated Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. Please note that alleles have been complemented to the positive strand. Allele T is associated with decreased metabolism of nicotine as compared to allele A. T Is Associated with decreased metabolism of A +1451672704 rs768416963 CYP2A6 nicotine 34476898 Metabolism/PK not stated Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. Allele T is associated with decreased metabolism of nicotine as compared to allele C. T Is Associated with decreased metabolism of C +1451672720 rs1302192284 CYP2A6 nicotine 34476898 Metabolism/PK not stated Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. Allele C is associated with decreased metabolism of nicotine as compared to allele T. C Is Associated with decreased metabolism of T +1451672740 rs111869995 CYP2A6 nicotine 34476898 Metabolism/PK not stated Assigned as decreased function following in vitro assessments, in vivo associations and variant construct functional assignments. Allele A is associated with decreased metabolism of nicotine as compared to allele C. A Is Associated with decreased metabolism of C +1451672760 rs137904044 CYP2A6 nicotine 34476898 Metabolism/PK not stated Assigned as decreased function following in vitro assessments, in vivo associations and variant construct functional assignments. Allele A is associated with decreased metabolism of nicotine as compared to allele C. A Is Associated with decreased metabolism of C +1451673060 rs150247689 CYP2A6 nicotine 34476898 Metabolism/PK not stated Assigned as neutral function following in vitro assessments, in vivo associations and variant construct functional assignments. Allele T is not associated with metabolism of nicotine as compared to allele C. T Is Not associated with metabolism of C +1451672768 rs200554095 CYP2A6 nicotine 34476898 Metabolism/PK not stated Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. Allele A is associated with decreased metabolism of nicotine as compared to allele T. A Is Associated with decreased metabolism of T +1451672772 rs772964366 CYP2A6 nicotine 34476898 Metabolism/PK not stated Assigned as decreased function following in vitro assessments, in vivo associations and variant construct functional assignments. Allele G is associated with decreased metabolism of nicotine as compared to allele C. G Is Associated with decreased metabolism of C +1451672820 rs138978736 CYP2A6 nicotine 34476898 Metabolism/PK not stated Assigned as neutral function following in vitro assessments, in vivo associations and variant construct functional assignments. Allele T is not associated with metabolism of nicotine as compared to allele G. T Is Not associated with metabolism of G +1451672824 rs761666827 CYP2A6 nicotine 34476898 Metabolism/PK not stated Assigned as neutral function following in vitro assessments, in vivo associations and variant construct functional assignments. Allele T is not associated with metabolism of nicotine as compared to allele G. T Is Not associated with metabolism of G +1451673040 rs143841823 CYP2A6 nicotine 34476898 Metabolism/PK not stated Assigned as neutral function following in vitro assessments, in vivo associations and variant construct functional assignments. Allele G is not associated with metabolism of nicotine as compared to allele A. G Is Not associated with metabolism of A +1451672880 rs758479488 CYP2A6 nicotine 34476898 Metabolism/PK not stated Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. Allele T is associated with decreased metabolism of nicotine as compared to allele C. T Is Associated with decreased metabolism of C +1451672884 rs145157460 CYP2A6 nicotine 34476898 Metabolism/PK not stated Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. Please note that alleles have been complemented to the positive strand. Allele T is associated with decreased metabolism of nicotine as compared to allele G. T Is Associated with decreased metabolism of G +1451672960 rs148693084 CYP2A6 nicotine 34476898 Metabolism/PK not stated Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. Please note that alleles have been complemented to the positive strand. Allele G is associated with decreased metabolism of nicotine as compared to allele A. G Is Associated with decreased metabolism of A +1451672964 rs1303839356 CYP2A6 nicotine 34476898 Metabolism/PK not stated Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. Please note that alleles have been complemented to the positive strand. Allele T is associated with decreased metabolism of nicotine as compared to allele C. T Is Associated with decreased metabolism of C +1451672980 rs374515279 CYP2A6 nicotine 34476898 Metabolism/PK not stated Assigned as decreased function following in vitro assessments, in vivo associations and variant construct functional assignments. Allele T is associated with decreased metabolism of nicotine as compared to allele C. T Is Associated with decreased metabolism of C +1451673000 rs145308399 CYP2A6 nicotine 34476898 Metabolism/PK not stated Assigned as decreased function following in vitro assessments, in vivo associations and variant construct functional assignments. Allele T is associated with decreased metabolism of nicotine as compared to allele C. T Is Associated with decreased metabolism of C +1451673020 rs777098658 CYP2A6 nicotine 34476898 Metabolism/PK not stated Assigned as decreased function following in vitro assessments, in vivo associations and variant construct functional assignments. Allele G is associated with decreased metabolism of nicotine as compared to allele A. G Is Associated with decreased metabolism of A +1451673080 rs5031016 CYP2A6 nicotine 34476898 Metabolism/PK not stated Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. This variant is referred to in the paper as being equivalent to *7 however, this variant is found in multiple CYP2A6 alleles. Allele G is associated with decreased metabolism of nicotine as compared to allele A. G Is Associated with decreased metabolism of A +1452442340 CYP2A6*1, CYP2A6*55 CYP2A6 nicotine 34476898 Metabolism/PK not stated Assigned as decreased function following in vitro assessments, in vivo associations and variant construct functional assignments. Variant referred to as rs114558780 in the paper. CYP2A6 *55 is associated with decreased metabolism of nicotine as compared to CYP2A6 *1. *55 Is Associated with decreased metabolism of *1 +1451672968 rs778019189 CYP2A6 nicotine 34476898 Metabolism/PK not stated Assigned as loss-of-function following in vitro assessments, in vivo associations and variant construct functional assignments. Please note that alleles have been complemented to the positive strand. Allele G is associated with decreased metabolism of nicotine as compared to allele A. G Is Associated with decreased metabolism of A +769180270 rs8187725 SLC22A3 catecholamines, metformin 20859243 Other, Metabolism/PK yes In cells expressing the T variant, the uptake of these drugs was significantly reduced(about 80%). Allele T is associated with decreased metabolism of catecholamines and metformin as compared to allele C. T Is Associated with decreased metabolism of and C +1448617711 CYP2D6*1, CYP2D6*5, CYP2D6*10 CYP2D6 dextromethorphan 28512430 Metabolism/PK yes Single dose study with 15mg dextromethorphan DM. Urine, Plasma, and Saliva Metabolic Ratios were accessed. Subjects were genotyped by DNA sequencing analysis for CYP2D6*1, *2, *3, *4, *6, *7, *10, *14, *18, *21, *28, *33, *34, *35, *36, *39, *41, *43, *49, *51, *52, *54, *60, *63, *65, *69, *71, and *75 and CNV were determined. NM n= 190; *5/*10 n=35. The urinary, plasma, or salivary MRs increased successively in subjects with CYP*1/*1, *1/*10, *10/*10, and *5/*10 with statistical significance (all P-values < 0.001). CYP2D6 *5/*10 is associated with decreased metabolism of dextromethorphan in healthy individuals as compared to CYP2D6 *1/*1 + *1/*10 + *10/*10. *5/*10 Is Associated with decreased metabolism of in healthy individuals *1/*1 + *1/*10 + *10/*10 +1448617702 CYP2D6*1, CYP2D6*10 CYP2D6 dextromethorphan 28512430 Metabolism/PK yes Single dose study with 15mg dextromethorphan DM. Urine, Plasma, and Saliva Metabolic Ratios were accessed. Subjects were genotyped by DNA sequencing analysis for CYP2D6*1, *2, *3, *4, *6, *7, *10, *14, *18, *21, *28, *33, *34, *35, *36, *39, *41, *43, *49, *51, *52, *54, *60, *63, *65, *69, *71, and *75 and CNV were determined. *1/*1 n= 22; *1/*10 n=93. The urinary, plasma, or salivary MRs increased successively in subjects with CYP*1/*1, *1/*10, *10/*10, and *5/*10 with statistical significance (all P-values < 0.001). CYP2D6 *1/*10 is associated with decreased metabolism of dextromethorphan in healthy individuals as compared to CYP2D6 *1/*1. *1/*10 Is Associated with decreased metabolism of in healthy individuals *1/*1 +1448617690 CYP2D6*1, CYP2D6*10 CYP2D6 dextromethorphan 28512430 Metabolism/PK yes Single dose study with 15mg dextromethorphan DM. Urine, Plasma, and Saliva Metabolic Ratios were accessed. Subjects were genotyped by DNA sequencing analysis for CYP2D6*1, *2, *3, *4, *6, *7, *10, *14, *18, *21, *28, *33, *34, *35, *36, *39, *41, *43, *49, *51, *52, *54, *60, *63, *65, *69, *71, and *75 and CNV were determined. *1/*10 n= 93; *10/*10 n=85. The urinary, plasma, or salivary MRs increased successively in subjects with CYP*1/*1, *1/*10, *10/*10, and *5/*10 with statistical significance (all P-values < 0.001). CYP2D6 *10/*10 is associated with decreased metabolism of dextromethorphan in healthy individuals as compared to CYP2D6 *1/*10. *10/*10 Is Associated with decreased metabolism of in healthy individuals *1/*10 +1448617678 CYP2D6*1, CYP2D6*10 CYP2D6 dextromethorphan 28512430 Metabolism/PK yes Single dose study with 15mg dextromethorphan DM. Urine, Plasma, and Saliva Metabolic Ratios were accessed. Subjects were genotyped by DNA sequencing analysis for CYP2D6*1, *2, *3, *4, *6, *7, *10, *14, *18, *21, *28, *33, *34, *35, *36, *39, *41, *43, *49, *51, *52, *54, *60, *63, *65, *69, *71, and *75 and CNV were determined. *1/*1 n= 22; *10/*10 n=85. The urinary, plasma, or salivary MRs increased successively in subjects with CYP*1/*1, *1/*10, *10/*10, and *5/*10 with statistical significance (all P-values < 0.001). CYP2D6 *10/*10 is associated with decreased metabolism of dextromethorphan in healthy individuals as compared to CYP2D6 *1/*1. *10/*10 Is Associated with decreased metabolism of in healthy individuals *1/*1 +1448995530 rs8094439 CDH2 methadone 28358908 Efficacy yes Association between SNP and response to methadone is not directly shown in the paper. Genotype AA is associated with increased concentrations of CDH2 in plasma and individuals with increased CDH2 levels had an improved response to methadone treatment (p=0.005). Genotype AA is associated with increased response to methadone as compared to genotypes AG + GG. AA Is Associated with increased response to AG + GG +1448995536 rs17446819 CDH2 methadone 28358908 Efficacy yes Association between SNP and response to methadone is not directly shown in the paper. Genotype AA is associated with increased concentrations of CDH2 in plasma and individuals with increased CDH2 levels had an improved response to methadone treatment (p=0.005). Genotype CC is associated with increased response to methadone as compared to genotypes AA + AC. CC Is Associated with increased response to AA + AC +1448267244 CYP3A5*3, CYP3A5*6, CYP3A5*7 CYP3A5 tacrolimus 26667830 Metabolism/PK not stated This study generated an algorithm for predicting tacrolimus daily dose based on tacrolimus typical value of clearance (TVCl/F) that included CYP3A5 alleles *3, *6 and *7. It also found that in subjects with the *1/*3, *1/*6 and *1/*7 genotypes had TVCl/F decreased by 16.2%, 8.2% and 24.1% respectively, and subjects with the *3/*3, *3/*6, *3/*7 or *6/*7 had it decreased by 51%, 36.5%, 54.5% and 44.2% respectively, as compared to the *1/*1 genotype. CYP3A5 *3 + *6 + *7 are associated with decreased clearance of tacrolimus in people with Kidney Transplantation. *3 + *6 + *7 Are Associated with decreased clearance of in people with Disease:Kidney Transplantation +1451409603 CYP2A6*1, CYP2A6*12 CYP2A6 3-hydroxycotinine 31959879 Metabolism/PK yes CYP2A6 *1/*12 is associated with decreased concentrations of 3-hydroxycotinine as compared to CYP2A6 *1/*1. *1/*12 Is Associated with decreased concentrations of *1/*1 +1451409712 rs12471326 UGT1A9 cotinine glucuronide 31959879 Metabolism/PK yes Genotype CT is associated with increased concentrations of cotinine glucuronide as compared to genotype TT. CT Is Associated with increased concentrations of TT +1451409700 rs145014075 CYP2A6 nicotine 31959879 Metabolism/PK yes Participants with the GT genotype had significantly higher creatinine-adjusted levels of nicotine. Genotype GT is associated with increased concentrations of nicotine as compared to genotype GG. GT Is Associated with increased concentrations of GG +1450822015 rs1799971 OPRM1 heroin 25911999 Toxicity no No association between this variant and heroin use in the last month. Allele G is not associated with dose of heroin in men Heroin Dependence as compared to allele A. G Is Not associated with dose of in men Other:Heroin Dependence A +1448634646 rs833061 VEGFA carfilzomib, dexamethasone, lenalidomide 28488026 Efficacy yes "Authors indicate repose as CR/nCR/sCR but do not define these and non-response as VGPR and PR/SD (which assume to mean progression/stable disease). They also test ""minimum residual disease negativity"" MRD- as measure of response." Genotypes CT + TT is associated with increased response to carfilzomib, dexamethasone and lenalidomide in people with Multiple Myeloma as compared to genotype CC. CT + TT Is Associated with increased response to and in people with Disease:Multiple Myeloma CC +1448634657 rs2305948 KDR carfilzomib, dexamethasone, lenalidomide 28488026 Efficacy yes Authors indicate repose as CR/nCR/sCR but do not define these and non-response as VGPR and PR/SD (which assume to mean progression/stable disease). There was only one TT individual who had sCR. Genotypes CT + TT is associated with increased response to carfilzomib, dexamethasone and lenalidomide in people with Multiple Myeloma as compared to genotype CC. CT + TT Is Associated with increased response to and in people with Disease:Multiple Myeloma CC +1448634666 rs1870377 KDR carfilzomib, dexamethasone, lenalidomide 28488026 Efficacy yes "as measured by ""minimum residual disease negativity"" (MRD-). Gene is on negative strand, alleles complemented to positive strand. Authors reported for response associated allele as protein change as 472Q." Genotypes AT + TT is associated with increased response to carfilzomib, dexamethasone and lenalidomide in people with Multiple Myeloma as compared to genotype AA. AT + TT Is Associated with increased response to and in people with Disease:Multiple Myeloma AA +982044357 rs2884737 VKORC1 warfarin 16611750 Dosage yes Allele C is associated with decreased dose of warfarin as compared to allele A. C Is Associated with decreased dose of A +982044365 rs8050894 VKORC1 warfarin 16611750 Dosage yes Allele G is associated with decreased dose of warfarin as compared to allele C. G Is Associated with decreased dose of C +982044349 rs2359612 VKORC1 warfarin 16611750 Dosage yes Allele G is associated with increased dose of warfarin as compared to allele A. G Is Associated with increased dose of A +982044373 rs17708472 VKORC1 warfarin 16611750 Dosage no Allele A is not associated with increased dose of warfarin as compared to allele G. A Is Not associated with increased dose of G +827647045 rs9934438 VKORC1 warfarin 16611750 Dosage yes Allele A is associated with decreased dose of warfarin as compared to allele G. A Is Associated with decreased dose of G +827649690 rs7294 PRSS53, VKORC1 warfarin 16611750 Dosage yes Allele T is associated with increased dose of warfarin as compared to allele C. T Is Associated with increased dose of C +1451133752 CYP2C19 intermediate metabolizer CYP2C19 morphine, nortriptyline 31738228 Efficacy no No significant difference in improvement in pain scores between metabolizer groups. CYP2C19 intermediate metabolizer is not associated with response to morphine and nortriptyline in people with Pain as compared to CYP2C19 normal metabolizer. intermediate metabolizer Is Not associated with response to and in people with Other:Pain normal metabolizer +1451133757 CYP2C19 poor metabolizer CYP2C19 morphine, nortriptyline 31738228 Efficacy no No significant difference in improvement in pain scores between metabolizer groups. CYP2C19 poor metabolizer is not associated with response to morphine and nortriptyline in people with Pain as compared to CYP2C19 normal metabolizer. poor metabolizer Is Not associated with response to and in people with Other:Pain normal metabolizer +1451133680 rs1799971 OPRM1 morphine, nortriptyline 31738228 Efficacy no No significant difference in improvement in pain scores between genotype groups. Allele G is not associated with response to morphine and nortriptyline in people with Pain as compared to allele A. G Is Not associated with response to and in people with Other:Pain A +1451133746 rs7997012 HTR2A morphine, nortriptyline 31738228 Efficacy no No significant difference in improvement in pain scores between genotype groups. Allele G is not associated with response to morphine and nortriptyline in people with Pain as compared to allele A. G Is Not associated with response to and in people with Other:Pain A +1451133740 rs6313 HTR2A morphine, nortriptyline 31738228 Efficacy no No significant difference in improvement in pain scores between genotype groups. Allele A is not associated with response to morphine and nortriptyline in people with Pain as compared to allele G. A Is Not associated with response to and in people with Other:Pain G +1451133560 rs1045642 ABCB1 morphine, nortriptyline 31738228 Efficacy yes Patients with the GG genotype had a significantly greater improvement in pain scores compared to those with the AA or AG genotypes. Please note that alleles have been complemented to the positive strand. Genotype GG is associated with increased response to morphine and nortriptyline in people with Pain as compared to genotypes AA + AG. GG Is Associated with increased response to and in people with Other:Pain AA + AG +1447949757 CYP2C19*1, CYP2C19*2 CYP2C19 clopidogrel 26961113 Efficacy yes Frequency of CYP2C19*2 (rs4244285) AA/AG genotypes was significantly higher in clopidogrel-resistant patients than in clopidogrel-sensitive patients. CYP2C19 *1/*2 + *2/*2 are associated with increased resistance to clopidogrel in people with Stroke as compared to CYP2C19 *1/*1. *1/*2 + *2/*2 Are Associated with increased resistance to in people with Disease:Stroke *1/*1 +1447949744 CYP2C19*1, CYP2C19*3 CYP2C19 clopidogrel 26961113 Efficacy no CYP2C19 *1/*3 + *3/*3 are not associated with resistance to clopidogrel in people with Stroke as compared to CYP2C19 *1/*1. *1/*3 + *3/*3 Are Not associated with resistance to in people with Disease:Stroke *1/*1 +1447949731 CYP2C9*1, CYP2C9*3 CYP2C9 clopidogrel 26961113 Efficacy no CYP2C9 *1/*3 + *3/*3 is not associated with resistance to clopidogrel in people with Stroke as compared to CYP2C9 *1/*1. *1/*3 + *3/*3 Is Not associated with resistance to in people with Disease:Stroke *1/*1 +1447949708 rs2242480 CYP3A4 clopidogrel 26961113 Efficacy no Genotypes CT + TT is not associated with resistance to clopidogrel in people with Stroke as compared to genotype CC. CT + TT Is Not associated with resistance to in people with Disease:Stroke CC +1447949723 rs1934980 CYP2C8 clopidogrel 26961113 Efficacy no Genotypes AA + AG is not associated with resistance to clopidogrel in people with Stroke as compared to genotype GG. AA + AG Is Not associated with resistance to in people with Disease:Stroke GG +1447949716 rs17110453 CYP2C8 clopidogrel 26961113 Efficacy no Genotypes AC + CC is not associated with resistance to clopidogrel in people with Stroke as compared to genotype AA. AC + CC Is Not associated with resistance to in people with Disease:Stroke AA +1447949770 rs776746 CYP3A5 clopidogrel 26961113 Efficacy yes Frequency of CC+TC genotypes was significantly higher in clopidogrel-resistant patients than in clopidogrel-sensitive patients. Genotypes CC + CT are associated with increased resistance to clopidogrel in people with Stroke as compared to genotype TT. CC + CT Are Associated with increased resistance to in people with Disease:Stroke TT +1452527520 rs1349294037 SLC22A1 sumatriptan 34025422 Other not stated """The AUC of sumatriptan was slightly increased in homozygous rs35854239 duplication allele carriers compared to the wild-type (means of 7187 vs. 6277 min × ng/ ml, respectively, Figure 7A). However, this increase was not significant and was on average by 14% compared to the observed 127% increase in poor OCT1 transporters (homozygous or compound heterozygous carriers of the coding variants Arg61Cys, Gly401Ser, Gly465Arg) observed in the same study."" rs35854239 was retired by dbSNP. Authors also described two other rs numbers for this indel (rs113569197 or rs36056065) also retired. We mapped this to 3 possible dbSNP identifiers that all represent indels near the end of exon 7, rs1349294037, rs755473306 and rs2114790299 but none seems to represent exactly the variants depicted in figure 1." Genotype TAAGTTGT/TAAGTTGT is associated with increased concentrations of sumatriptan as compared to genotype del/del. TAAGTTGT/TAAGTTGT Is Associated with increased concentrations of del/del +1452527525 rs1349294037 SLC22A1 fenoterol 34025422 Other not stated """Even more, the AUC of fenoterol was not higher in homozygous carriers of the rs35854239 duplication allele compared to the wild-type (means of 84.25 vs. 86.84 min × ng/ml, respectively; Figure 7B). In comparison, poor OCT1 transporters showed 1.89-fold higher AUCs for fenoterol. This data suggests that compared to the well-known loss-of-function coding variants, the 8 bp duplication shows only limited effects on drugs pharmacokinetics."" rs35854239 was retired by dbSNP. Authors also described two other rs numbers for this indel (rs113569197 or rs36056065) also retired. We mapped this to 3 possible dbSNP identifiers that all represent indels near the end of exon 7, rs1349294037, rs755473306 and rs2114790299 but none seems to represent exactly the variants depicted in figure 1." Genotype TAAGTTGT/TAAGTTGT is not associated with increased concentrations of fenoterol as compared to genotype del/del. TAAGTTGT/TAAGTTGT Is Not associated with increased concentrations of del/del +1296666983 rs12052787 UGT1A9 simvastatin 25493567 Efficacy yes The mean Emax (maximum decrease in LDL-C) was 59.77 ± 22.68, 64.24 ± 24.56, and 61.42 ± 4.617mg/dl, for patients with 0, 1 or 2 copies of the minor T allele. There is a nominally significant association between Emax with this variant. Allele T is associated with increased response to simvastatin as compared to allele C. T Is Associated with increased response to C +1296666974 rs2003569 UGT1A9 simvastatin 25493567 Efficacy yes The mean Emax (maximum decrease in LDL-C) was 59.3 ± 23.0, 62.0 ± 22.4, and 69.7 ± 24.8 mg/dl, for patients with 0, 1 or 2 copies of the minor A allele. The difference in response was greater in African-Americans than in European Americans when stratified by race. Allele A is associated with increased response to simvastatin as compared to allele G. A Is Associated with increased response to G +1451927500 rs7903366 salbutamol 33851947 Efficacy yes rs7903366 was significantly negatively associated with having a high bronchodilator response category in an adjusted analysis. Risk allele not explicit stated in text only in table 1 summarizing prior studies. Allele T is associated with decreased response to salbutamol in children with Asthma as compared to allele C. T Pediatric Is Associated with decreased response to in children with Other:Asthma C +1451927546 rs7081864 salbutamol 33851947 Efficacy yes rs7903366 was significantly negatively associated with having a high bronchodilator response category in an adjusted analysis. Risk allele not explicit stated in text only in table 1 summarizing prior studies. Allele A is associated with decreased response to salbutamol in children with Asthma as compared to allele G. A Pediatric Is Associated with decreased response to in children with Other:Asthma G +1444843667 rs11322783 IFNL4 peginterferon alfa-2a, peginterferon alfa-2b, ribavirin 25548683 Efficacy yes in Japanese hepatitis C genotype 1 patients. Genotype TT/TT is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b and ribavirin in people with Hepatitis C as compared to genotypes G/TT + GG. TT/TT Is Associated with increased response to and in people with Disease:Hepatitis C virus infection G/TT + GG +1444843675 rs11322783 IFNL4 peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, telaprevir 25548683 Efficacy yes in Japanese hepatitis C genotype 1 patients. Genotype TT/TT is associated with increased response to peginterferon alfa-2a, peginterferon alfa-2b, ribavirin and telaprevir in people with Hepatitis C as compared to genotypes G/TT + GG. TT/TT Is Associated with increased response to and in people with Disease:Hepatitis C virus infection G/TT + GG +1444930282 rs16969968 CHRNA5 nicotine 26010901 Dosage yes The A allele of rs16969968 was significantly associated with 10% higher cotinine levels, however it was not significantly with self-reported number of cigarettes per day (P = 0.30). Smokers carrying an ‘A’ allele of rs16969968 had significantly higher cotinine per cigarette (P = 0.002). Allele A is associated with increased dose of nicotine in people with Tobacco Use Disorder as compared to allele G. A Is Associated with increased dose of in people with Disease:Tobacco Use Disorder G +1444930241 rs16969968 CHRNA5 nicotine, varenicline 26010901 Efficacy no Response here refers to smoking cessation outcomes at 7 days and nicotine refers to nicotine patches. Smoking cessation outcomes at 6 months and 12 months were also not significantly associated with genotype. Genotype GG is not associated with response to nicotine or varenicline in people with Tobacco Use Disorder as compared to genotypes AA + AG. GG Is Not associated with response to or in people with Disease:Tobacco Use Disorder AA + AG +1444930252 rs578776 CHRNA3 nicotine, varenicline 26010901 Efficacy no Response here refers to smoking cessation outcomes at 7 days and nicotine refers to nicotine patches. Smoking cessation outcomes at 6 months and 12 months were also not significantly associated with genotype. Genotype GG is not associated with response to nicotine or varenicline in people with Tobacco Use Disorder as compared to genotypes AA + AG. GG Is Not associated with response to or in people with Disease:Tobacco Use Disorder AA + AG +1444930247 rs588765 CHRNA5 nicotine, varenicline 26010901 Efficacy no Response here refers to smoking cessation outcomes at 7 days and nicotine refers to nicotine patches. Smoking cessation outcomes at 6 months and 12 months were also not significantly associated with genotype. Genotype TT is not associated with response to nicotine or varenicline in people with Tobacco Use Disorder as compared to genotypes CC + CT. TT Is Not associated with response to or in people with Disease:Tobacco Use Disorder CC + CT +1444930293 rs578776 CHRNA3 nicotine 26010901 Metabolism/PK no The A allele of s578776 was significantly associated with 8% lower cotinine levels, but the association was no longer significant after adjusting for rs16969968 (the per allele effect size was -8.2 ng/mL, CI = -20.24–3.93 and P = 0.19 vs. -18.9 ng/mL without adjustment P = 0.002 ). Allele A is not associated with dose of nicotine in people with Tobacco Use Disorder as compared to allele G. A Is Not associated with dose of in people with Disease:Tobacco Use Disorder G +1444930299 rs588765 CHRNA5 nicotine 26010901 Dosage no Allele C is not associated with dose of nicotine in people with Tobacco Use Disorder as compared to allele T. C Is Not associated with dose of in people with Disease:Tobacco Use Disorder T +1450826727 rs1799971 OPRM1 nicotine 28548579 Other yes Subgroup analysis of schizophrenia patients only found that those carrying the G allele smoked more cigarettes per day than those with the AA genotype. Genotypes AG + GG are associated with increased exposure to nicotine in people with Schizophrenia as compared to genotype AA. AG + GG Are Associated with increased exposure to in people with Other:Schizophrenia AA +1450826733 rs1799971 OPRM1 nicotine 28548579 Other no Subgroup analysis of bipolar disorder patients only found no significant difference in number of cigarettes smoked per day between genotype groups. Genotypes AG + GG are not associated with exposure to nicotine in people with Bipolar Disorder as compared to genotype AA. AG + GG Are Not associated with exposure to in people with Other:Bipolar Disorder AA +1450826739 rs1800497 DRD2 nicotine 28548579 Other no Analysis of the total cohort found no significant difference in number of cigarettes smoked per day between genotype groups. Genotypes AA + AG are not associated with exposure to nicotine in people with Bipolar Disorder or Schizophrenia as compared to genotype GG. AA + AG Are Not associated with exposure to in people with Other:Bipolar Disorder, Other:Schizophrenia or GG +1450826746 rs1800497 DRD2 nicotine 28548579 Other no Subgroup analysis of bipolar disorder patients only found no significant difference in number of cigarettes smoked per day between genotype groups. Genotypes AA + AG are not associated with exposure to nicotine in people with Bipolar Disorder as compared to genotype GG. AA + AG Are Not associated with exposure to in people with Other:Bipolar Disorder GG +1450826752 rs1800497 DRD2 nicotine 28548579 Other no Subgroup analysis of schizophrenia patients only found no significant difference in the number of cigarettes smoked per day between the genotype groups. However, the authors noted that female schizophrenia patients with the GG genotype reported smoking significantly more cigarettes per day than male schizophrenia patients carrying the A allele (p=0.28) Genotypes AA + AG are not associated with exposure to nicotine in people with Schizophrenia as compared to genotype GG. AA + AG Are Not associated with exposure to in people with Other:Schizophrenia GG +1450826625 rs1799971 OPRM1 nicotine 28548579 Other no Analysis of the total cohort found no significant difference in number of cigarettes smoked per day between genotype groups. Genotypes AG + GG are not associated with exposure to nicotine in people with Bipolar Disorder or Schizophrenia as compared to genotype AA. AG + GG Are Not associated with exposure to in people with Other:Bipolar Disorder, Other:Schizophrenia or AA +1452040233 rs6313 HTR2A citalopram 19077664 Efficacy no Allele A is not associated with response to citalopram in people with Depressive Disorder, Major as compared to allele G. A Is Not associated with response to in people with Other:Major Depressive Disorder G +1451451700 rs4149056 SLCO1B1 pitavastatin 20140004 Efficacy no There was no statistical difference among patients with wild type, SLCO1B1 388A>G or SLCO1B1 521T>C in the lipid-lowering efficacy of pitavastatin in Chinese patients with essential hyperlipidemia. Genotypes CC + CT are not associated with response to pitavastatin in people with Hyperlipidemias as compared to genotype TT. CC + CT Are Not associated with response to in people with Other:Hyperlipidemias TT +1451451706 rs2306283 SLCO1B1 pitavastatin 20140004 Efficacy no There was no statistical difference among patients with wild type, SLCO1B1 388A>G or SLCO1B1 521T>C in the lipid-lowering efficacy of pitavastatin in Chinese patients with essential hyperlipidemia. Genotypes AG + GG are not associated with response to pitavastatin in people with Hyperlipidemias as compared to genotype AA. AG + GG Are Not associated with response to in people with Other:Hyperlipidemias AA +1452864440 rs2032582 ABCB1 moxifloxacin 40001447 Metabolism/PK no "Alleles complemented. ""This study found no association between genotype variations in ABCB1 and SLCO1B1 and the AUC0–24 and Cmax of moxifloxacin."" The majority of patients were CC (n=38) or AC (n=34) with AA (n=4), AT (n=2) and CT (n=2). There was wide variety of AUCs." Genotype AC is not associated with increased exposure to moxifloxacin in people with Drug Resistance and Tuberculosis as compared to genotype CC. AC Is Not associated with increased exposure to in people with Efficacy:Drug Resistance, Other:Tuberculosis and CC +1452864447 rs4149015 SLCO1B1 moxifloxacin 40001447 Metabolism/PK no """This study found no association between genotype variations in ABCB1 and SLCO1B1 and the AUC0–24 and Cmax of moxifloxacin. Still, the analysis on SLCO1B1 rs4149015 revealed a trend that patients with the GA genotype exhibited a higher moxifloxacin AUC0–24 and Cmax than those with the GG genotype (Table 4). """ Genotype AG is associated with increased exposure to moxifloxacin in people with Drug Resistance and Tuberculosis as compared to genotype GG. AG Is Associated with increased exposure to in people with Efficacy:Drug Resistance, Other:Tuberculosis and GG +1448097395 rs717620 ABCC2 tamoxifen 27110128 Efficacy yes Efficacy was measured as disease-free survival in breast cancer patients with distant metastasis of bone, lung, or liver. No patients had the TT genotype. Genotype CT is associated with increased response to tamoxifen in women Breast Neoplasms as compared to genotype CC. CT Is Associated with increased response to in women Disease:Breast Neoplasms CC +1452238320 HLA-DRB1*04:05 HLA-DRB1 abatacept 37709837 Efficacy yes "as measured by percent change in SDAI after 3 months. ""Of all the HLA-DRB1 alleles, the only one that showed a significant difference in percent change in SDAI after 3 months was HLA-DRB1*04:05, one of the SE alleles in ABT use (28.5% SDAI improvement in HLA-DRB1*04:05 allele non-carriers and 59.8% SDAI improvement in HLA-DRB1*04:05 allele carriers, p = 0.003, false discovery rate = 0.039). "" Not significant for tocilizumab, or TNF inhibitors." HLA-DRB1 *04:05 is associated with increased clinical benefit to abatacept in people with Arthritis, Rheumatoid. *04:05 Is Associated with increased clinical benefit to in people with Other:Rheumatoid arthritis +1451909620 rs2612091 ENOSF1 fluorouracil 36172660 Efficacy yes "Alleles complemented to plus chromosomal strand. The authors describe the effect as ""Patients with genotype AG did not respond to treatment. "" however in table 3 it shows GG as over represented in the responders." Genotype CC is associated with increased response to fluorouracil in people with Stomach Neoplasms as compared to genotypes CT + TT. CC Is Associated with increased response to in people with Other:Stomach Neoplasms CT + TT +1296599203 rs13266634 SLC30A8 insulin recombinant, zinc acetate 25348609 Efficacy yes The aim of the study was to determine whether zinc supplements improved insulin response in people with the CT+TT genotypes as compared to people with the CC genotypes. After being administered insulin without zinc, fasting characteristics were similar across genotypes except for C-peptide:insulin ratio, insulin AUC at 5 and 10 minutes, which were significantly lower in the CC genotype group. The proinsulin:insulin ratio at 5 and 10 minutes after insulin and glucose as well as the C-peptide:insulin ratio at 5 and 10 minutes after insulin and glucose were also lower in the CC genotype group compared to the CT+TT genotype group. People with the CT+TT genotypes had significantly improved responses to insulin when it was supplemented with zinc acetate as compared to CC genotypes. Genotypes CT + TT is associated with increased response to insulin recombinant and zinc acetate in healthy individuals as compared to genotype CC. CT + TT Is Associated with increased response to and in healthy individuals CC +1450823384 rs1799971 OPRM1 ethanol 26125586 Other not stated MRI study. Subjects carrying the G allele showed increased pre- vs. post-priming alcohol cue reactivity activation in the left caudate, thalamus, putamen, and bilateral supramarginal gyrus and parietal operculum cortex compared to subjects with the AA genotype. Genotypes AG + GG are associated with increased response to ethanol in people with Alcoholism as compared to genotype AA. AG + GG Are Associated with increased response to in people with Other:Alcohol abuse AA +1451440360 rs2740574 CYP3A4 buprenorphine 29450233 Dosage no "Case study of a patient receiving buprenorphine/naloxone as opioid agonist treatment. Patient experienced withdrawal symptoms when dose was reduced from 28mg/day to 24mg/day, indicating a potential ultrarapid metabolizer phenotype. Authors state ""The patient was determined to exhibit the CYP3A4*1/*1B genotype""" Genotype CT is associated with increased dose of buprenorphine in people with Opioid-Related Disorders. CT Is Associated with increased dose of in people with Disease:Opioid-Related Disorders +1452491080 CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*9 CYP2C9 noscapine 38809387 Metabolism/PK yes """Signifcant diferences; were observed only between genotype-predicted phenotype; groups of CYP2C9 when comparing Cmax (p values, 0.00091; and 0.00013) and AUC0–t; (p values, 0.0047 and 0.00096) for; EMs with IMs (AS of 1.5) and EMs with PMs & IMs (AS; of 1.0), respectively.""" CYP2C9 *1/*1 + *1/*9 (assigned as normal metabolizer phenotype) is associated with increased clearance of Noscapine in healthy individuals as compared to CYP2C9 *1/*2 + *1/*3 + *2/*3 + *3/*3 (assigned as intermediate metabolizer and poor metabolizer phenotype) . *1/*1 + *1/*9 normal metabolizer Is Associated with increased clearance of in healthy individuals *1/*2 + *1/*3 + *2/*3 + *3/*3 intermediate metabolizer and poor metabolizer +1452376780 rs1803155 AADAC rifampin 38315168 Metabolism/PK yes """We found a significant association between AADAC c.841G>A genotype and rifampicin Cmax, which was sig-nificantly higher in carriers of the mutant variant allele (A/A, G/A) than in those with wild-type G/G genotype"" ""AADAC c.841GG and ABCB1 c.4036A>GAA genotype groups and male patients had a higher risk of low rifampicin plasma exposure than females.""" Genotype GG is associated with decreased exposure to rifampin in people with Tuberculosis as compared to genotypes AA + AG. GG Is Associated with decreased exposure to in people with Other:Tuberculosis AA + AG +1452376860 rs3842 ABCB1 rifampin 38315168 Metabolism/PK yes """geometric mean of Cmax and AUC0–7h was significantly higher among patients homozy-gous for the variant allele ABCB1c.4036G/G than heterozygous A/G or homozygous wild type (A/A)(Table 3)."" Alleles complemented" Genotype CC is associated with increased exposure to rifampin in people with Tuberculosis as compared to genotypes CT + TT. CC Is Associated with increased exposure to in people with Other:Tuberculosis CT + TT +1451927260 rs1799971 OPRM1 methadone 36305091 Efficacy no not significant in any model (recessive/dominant/additive/allelic) in primary study nor in meta-analysis. Allele A is not associated with increased clinical benefit to methadone in people with Heroin Dependence as compared to allele G. A Is Not associated with increased clinical benefit to in people with Other:Heroin Dependence G +1451927202 rs1799971 OPRM1 methadone 36305091 Dosage no not significant in any model (recessive/dominant/additive/allelic) in primary study nor in meta-analysis. Allele A is not associated with increased dose of methadone in people with Heroin Dependence as compared to allele G. A Is Not associated with increased dose of in people with Other:Heroin Dependence G +1446908047 rs12817819 ATP2B1 Antihypertensives 25385345 Efficacy yes 45,573 SNPs included in association analysis with resistant hypertension (RHTN) in European Americans and Hispanics from the INVEST cohort. Statistical threshold of p=2.6 x 10^-6 used. No SNP achieved this threshold, but the top signal from a meta-analysis of the European American and Hispanic INVEST cohorts was rs12817819. There was a 57% to 76% increase in risk for RHTN for each additional copy of the T allele. To replicate this association, it was tested in a different cohort (Women's Ischemia Syndrome Evaluation (WISE)); there was a consistent trend for this SNP and RHTN, though it did not achieve statistical significance. However, chip-wide significance was achieved in a meta-analysis of both INVEST cohorts and the WISE cohort. No evidence of heterogeneity was seen across the 3 studies. Please note that alleles have been complemented to the plus chromosomal strand. Genotypes CT + TT are associated with increased resistance to Antihypertensives in people with Coronary Artery Disease or Hypertension as compared to genotype CC. CT + TT Are Associated with increased resistance to in people with Disease:Coronary Artery Disease, Disease:Hypertension or CC +1183701419 CYP2C9*1, CYP2C9*2, CYP2C9*3, CYP2C9*5, CYP2C9*6, CYP2C9*10, CYP2C9*11 CYP2C9 warfarin 19802360 Dosage yes Where (*2+*3+*5+*6+*11) are considered variant (*V), Average Daily maintenance dose for *1/*1 > *1/*V > *V/*V. *5,*6,*11 were only seen in African-Americans. This result was significant in European-Americans but not in African-Americans. CYP2C9 *11 + *2 + *3 + *5 + *6 is associated with decreased dose of warfarin as compared to CYP2C9 *1. *11 + *2 + *3 + *5 + *6 Is Associated with decreased dose of *1 +1452488100 rs6166 FSHR gonadotropin,chorionic 16758348 Dosage yes In patients with ovarian dysfunction. SNP referred to as Ser680Asn in the paper and mapped to rs6166 by PharmGKB. Genotype CC is associated with increased dose of gonadotropin,chorionic in women as compared to genotype CT. CC Is Associated with increased dose of in women CT +1444705817 rs8099917 IFNL3 peginterferon alfa-2a, ribavirin 21987611 Efficacy yes This genotype is associated with sustained virological response (SVR). Genotype TT is associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C, Chronic as compared to genotypes GT + TT. TT Is Associated with increased response to and in people with Disease:Chronic hepatitis C virus infection GT + TT +1444705811 rs12980275 IFNL3 peginterferon alfa-2a, ribavirin 21987611 Efficacy yes This genotype is associated with sustained virological response (SVR). Genotype AA is associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C, Chronic as compared to genotypes AG + GG. AA Is Associated with increased response to and in people with Disease:Chronic hepatitis C virus infection AG + GG +1444705804 rs12979860 IFNL3, IFNL4 peginterferon alfa-2a, ribavirin 21987611 Efficacy yes This genotype is associated with sustained virological response (SVR). Genotype CC is associated with increased response to peginterferon alfa-2a and ribavirin in people with Hepatitis C, Chronic as compared to genotypes CT + TT. CC Is Associated with increased response to and in people with Disease:Chronic hepatitis C virus infection CT + TT +1452725953 rs3127602 SLC22A3 metformin 25991289 Efficacy yes "Authors looked at candidate genes in patients that had previously had genome sequencing. They look quite far outside of conventional gene boundaries. ""For each candidate gene we selected SNPs 50 kb upstream and downstream of each gene using 1000 genomes project variants and NCBI build 37 as the reference genome."" Table 2 shows rs3127602 as top SNP for SLC22A3" Allele T is associated with increased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C. T Is Associated with increased response to in people with Other:Diabetes Mellitus, Type 2 C +1452726100 rs11749180 PRKAA1 metformin 25991289 Efficacy yes "Authors looked at candidate genes in patients that had previously had genome sequencing. They look quite far outside of conventional gene boundaries. ""For each candidate gene we selected SNPs 50 kb upstream and downstream of each gene using 1000 genomes project variants and NCBI build 37 as the reference genome."" Table 2 shows rs11749180 as top SNP for PRKAA1" Allele A is associated with decreased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C. A Is Associated with decreased response to in people with Other:Diabetes Mellitus, Type 2 C +1452726048 rs10234709 SLC29A4 metformin 25991289 Efficacy yes "Authors looked at candidate genes in patients that had previously had genome sequencing. They look quite far outside of conventional gene boundaries. ""For each candidate gene we selected SNPs 50 kb upstream and downstream of each gene using 1000 genomes project variants and NCBI build 37 as the reference genome."" Table 2 shows rs10234709 as top SNP for SLC29A4" Allele A is associated with decreased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C. A Is Associated with decreased response to in people with Other:Diabetes Mellitus, Type 2 C +1452726112 rs4725434 PRKAG2 metformin 25991289 Efficacy yes "Authors looked at candidate genes in patients that had previously had genome sequencing. They look quite far outside of conventional gene boundaries. ""For each candidate gene we selected SNPs 50 kb upstream and downstream of each gene using 1000 genomes project variants and NCBI build 37 as the reference genome."" Table 2 shows rs4725434 as top SNP for PRKAG2" Allele T is associated with increased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C. T Is Associated with increased response to in people with Other:Diabetes Mellitus, Type 2 C +1452726008 rs2120274 SLC47A1 metformin 25991289 Efficacy yes "Authors looked at candidate genes in patients that had previously had genome sequencing. They look quite far outside of conventional gene boundaries. ""For each candidate gene we selected SNPs 50 kb upstream and downstream of each gene using 1000 genomes project variants and NCBI build 37 as the reference genome."" Table 2 shows rs2120274 as top SNP for SLC47A1" Allele A is associated with increased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele G. A Is Associated with increased response to in people with Other:Diabetes Mellitus, Type 2 G +1452726120 rs2301759 STK11 metformin 25991289 Efficacy yes "Authors looked at candidate genes in patients that had previously had genome sequencing. They look quite far outside of conventional gene boundaries. ""For each candidate gene we selected SNPs 50 kb upstream and downstream of each gene using 1000 genomes project variants and NCBI build 37 as the reference genome."" Table 2 shows rs2301759 as top SNP for STK11" Allele C is associated with increased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele T. C Is Associated with increased response to in people with Other:Diabetes Mellitus, Type 2 T +1452726057 rs4621031 SLC47A2 metformin 25991289 Efficacy yes "Authors looked at candidate genes in patients that had previously had genome sequencing. They look quite far outside of conventional gene boundaries. ""For each candidate gene we selected SNPs 50 kb upstream and downstream of each gene using 1000 genomes project variants and NCBI build 37 as the reference genome."" Table 2 shows rs4621031 as top SNP for SLC47A2" Allele C is associated with decreased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele T. C Is Associated with decreased response to in people with Other:Diabetes Mellitus, Type 2 T +1452725942 rs7541245 PRKAB2 metformin 25991289 Efficacy yes """he Locus Zoom plot for PRKAB2 (Supplementary Figure 1) placed rs7541245, the most significant (p=0.0019) SNP, as outside the gene boundaries. 5 SNPs (rs6665580, rs6659191, rs6678588, rs7541245, rs10494243) in high LD within PRKAB2, were found to be significantly associated with a decrease in glycemic response after metformin exposure. In summary, variation in PRKAB2, the gene encoding the beta subunit 2 of adenosine monophosphate-activated protein kinase complex, appears to be associated with decreases in glycemic response after exposure to metformin, with rs7541245 having the strongest SNP association."" Authors looked at candidate genes in patients that had previously had genome sequencing. They look quite far outside of conventional gene boundaries. ""For each candidate gene we selected SNPs 50 kb upstream and downstream of each gene using 1000 genomes project variants and NCBI build 37 as the reference genome.""" Allele A is associated with decreased response to metformin in people with Diabetes Mellitus, Type 2 as compared to allele C. A Is Associated with decreased response to in people with Other:Diabetes Mellitus, Type 2 C +1448258995 DPYD deficiency DPYD fluorouracil 3335642 Metabolism/PK not stated Case report. This patient was later genotyped in PMID 11895907. A 40-year-old white woman was diagnosed with breast cancer. She was treated with fluorouracil and developed neurotoxicity and neutropenia. She was found to have markedly prolonged elimination half-life of fluorouracil (159 min), decreased clearance (70 ml/min/m2) and no evidence of fluorouracil catabolites were seen in plasma or cerebrospinal fluid. She was found to have complete deficiency of DPYD enzyme activity in peripheral blood mononuclear cells. Her father and children had partial deficiency. DPYD deficiency is associated with decreased metabolism of fluorouracil in women with Breast Neoplasms. deficiency Is Associated with decreased metabolism of in women with Disease:Breast Neoplasms +1447944355 CYP2B6*1, CYP2B6*4, CYP2B6*6 CYP2B6 methadone 26389554 Metabolism/PK yes PK measures were AUC, clearance, peak concentration, exposure. CYP2B6 *1/*4 + *4/*6 is associated with increased clearance of methadone in healthy individuals as compared to CYP2B6 *1/*1. *1/*4 + *4/*6 Is Associated with increased clearance of in healthy individuals *1/*1 +1447944325 CYP2B6*1, CYP2B6*6 CYP2B6 methadone 26389554 Metabolism/PK yes PK measures were AUC, clearance, peak concentration, exposure. CYP2B6 *1/*6 + *6/*6 is associated with decreased clearance of methadone in healthy individuals as compared to CYP2B6 *1/*1. *1/*6 + *6/*6 Is Associated with decreased clearance of in healthy individuals *1/*1 +1451138920 NAT2 slow acetylator NAT2 hydralazine 17183730 Metabolism/PK not stated Note, NAT2 not specified just categorized in slow and rapid acetylator. Patients received a single oral 500-mg dose (two 250-mg tablets) of sulfamethazine and urine was collected within the ensuing 6 h for acetylator status phenotyping. Afterward, patients began treatment (day –7) with a daily dose of a slow-release formulation of hydralazine tablets containing either 182 mg for rapid-acetylators or 83 mg for slow- acetylators. Plasmatic levels of hydralazine were analyzed in 10 patients in whom plasma samples were available at different time-points during treatment. Distribution of these patients according to acetylator phenotype was four and six for slow and rapid, respectively. Mean plasma levels of hydralazine ranged from 204.8–275.1 ng/mL for rapid-acetylators, whereas these mean values were 252.1–344.2 ng/mL in slow- acetylators. Overall means were 246 and 299 ng/mL, respectively, which were not statistically significant different (p = 0.2445). The subjects received also other drugs to treat neoplasms. NAT2 slow acetylator is associated with decreased metabolism of hydralazine in people with Neoplasms as compared to NAT2 rapid acetylator. slow acetylator Is Associated with decreased metabolism of in people with Other:Neoplasms rapid acetylator +1451684680 CYP3A4 low activity CYP3A4 n-desmethylclozapine 33277605 Metabolism/PK yes "Authors state that ""strong association was observed between norclozapine formation and CYP3A4 expression"", where low expression of CYP3A4 in patients’ peripheral leukocytes was associated with higher clozapine concentrations and lower n-desmethylclozapine (also known as norclozapine), compared to normal/high expression of CYP3A4 in patients’ peripheral leukocytes. Authors did genotype for some CYP1A2 and CYP3A4/5 alleles but these ""alleles did not explain the inter-individual differences in CYP3A4 mRNA levels"" and ""hepatic CYP1A2 and CYP3A4 activities were therefore estimated from mRNA levels in patients’ leukocytes, categorizing the patients into low, normal and high expresser groups""" CYP3A4 low activity is associated with decreased concentrations of n-desmethylclozapine in people with Schizophrenia as compared to CYP3A4 high activity. low activity Is Associated with decreased concentrations of in people with Other:Schizophrenia high activity +1451684740 CYP1A2 low activity CYP1A2 n-desmethylclozapine 33277605 Metabolism/PK yes "comapring n-desemethylclozapine in patients’ peripheral leukocytes with low and normal/high CYP1A2 expression where all had normal/high CYP3A4 expression. AUthors describe ""further contribution of CYP1A2 to norclozapine production was also demonstrated"". Authors did genotype for some CYP1A2 and CYP3A4/5 alleles but these ""alleles did not explain the inter-individual differences in CYP3A4 mRNA levels"" and ""hepatic CYP1A2 and CYP3A4 activities were therefore estimated from mRNA levels in patients’ leukocytes, categorizing the patients into low, normal and high expresser groups""" CYP1A2 low activity is associated with decreased concentrations of n-desmethylclozapine in people with Schizophrenia as compared to CYP1A2 high activity. low activity Is Associated with decreased concentrations of in people with Other:Schizophrenia high activity +1452876240 rs2237892 KCNQ1 gliclazide 27694910 Efficacy yes """Regarding rs2237892, there were more responders among the rare TT allele homozygotes TT; 57.1% of the TT homozygotes responded, compared with only 15.9% of the CC homozygotes. The heterozygote CT group exhibited an intermediate response rate. The odds ratio for the T allele with respect to treatment success was 2.533 (95% CI: 1.283–4.999, P=0.007) compared with the rs2237892 C allele. """ Allele T is associated with increased clinical benefit to gliclazide in people with Diabetes Mellitus, Type 2 as compared to allele C. T Is Associated with increased clinical benefit to in people with Other:Diabetes Mellitus, Type 2 C +1452876165 rs2237895 KCNQ1 gliclazide 27694910 Efficacy yes """Similarly, the rs2237895 C allele was associated with a 2.360-fold decrease in glycated hemoglobin compared with the A allele (95% CI: 1.225–4.550, P=0.009).""" Allele C is associated with increased clinical benefit to gliclazide in people with Diabetes Mellitus, Type 2 as compared to allele A. C Is Associated with increased clinical benefit to in people with Other:Diabetes Mellitus, Type 2 A +982046937 CYP2D6*1, CYP2D6*40 CYP2D6 codeine 17517247 Efficacy yes Pediatric patients with severe sickle cell disease who have failed codeine therapy for a pain crisis while taking hydroxyurea were found to be more likely to have a reduced function allele (including *4, *5, *6, *17, *40) as compared to those with mild disease, likely due to a decreased conversion of codeine to morphine. Allele frequencies were not reported. Reduced function alleles were grouped for analysis. CYP2D6 *40 is associated with decreased response to codeine in children with Anemia, Sickle Cell as compared to CYP2D6 *1. *40 Pediatric Is Associated with decreased response to in children with Disease:Anemia, Sickle Cell *1 +982046931 CYP2D6*1, CYP2D6*17 CYP2D6 codeine 17517247 Efficacy yes Pediatric patients with severe sickle cell disease who have failed codeine therapy for a pain crisis while taking hydroxyurea were found to be more likely to have a reduced function allele (including *4, *5, *6, *17, *40) as compared to those with mild disease, likely due to a decreased conversion of codeine to morphine. Allele frequencies were not reported. Reduced function alleles were grouped for analysis. CYP2D6 *17 is associated with decreased response to codeine in children with Anemia, Sickle Cell as compared to CYP2D6 *1. *17 Pediatric Is Associated with decreased response to in children with Disease:Anemia, Sickle Cell *1 +982046925 CYP2D6*1, CYP2D6*6 CYP2D6 codeine 17517247 Efficacy yes Pediatric patients with severe sickle cell disease who have failed codeine therapy for a pain crisis while taking hydroxyurea were found to be more likely to have a reduced function allele (including *4, *5, *6, *17, *40) as compared to those with mild disease, likely due to a decreased conversion of codeine to morphine. Allele frequencies were not reported. Reduced function alleles were grouped for analysis. CYP2D6 *6 is associated with decreased response to codeine in children with Anemia, Sickle Cell as compared to CYP2D6 *1. *6 Pediatric Is Associated with decreased response to in children with Disease:Anemia, Sickle Cell *1 +982046905 CYP2D6*1, CYP2D6*4 CYP2D6 codeine 17517247 Efficacy yes Pediatric patients with severe sickle cell disease who have failed codeine therapy for a pain crisis while taking hydroxyurea were found to be more likely to have a reduced function allele (including *4, *5, *6, *17, *40) as compared to those with mild disease, likely due to a decreased conversion of codeine to morphine. Allele frequencies were not reported. Reduced function alleles were grouped for analysis. CYP2D6 *4 is associated with decreased response to codeine in children with Anemia, Sickle Cell as compared to CYP2D6 *1. *4 Pediatric Is Associated with decreased response to in children with Disease:Anemia, Sickle Cell *1 +982046919 CYP2D6*1, CYP2D6*5 CYP2D6 codeine 17517247 Efficacy yes Pediatric patients with severe sickle cell disease who have failed codeine therapy for a pain crisis while taking hydroxyurea were found to be more likely to have a reduced function allele (including *4, *5, *6, *17, *40) as compared to those with mild disease, likely due to a decreased conversion of codeine to morphine. Allele frequencies were not reported. Reduced function alleles were grouped for analysis. CYP2D6 *5 is associated with decreased response to codeine in children with Anemia, Sickle Cell as compared to CYP2D6 *1. *5 Pediatric Is Associated with decreased response to in children with Disease:Anemia, Sickle Cell *1 +1444703591 rs7387065 CSMD1 hydrochlorothiazide 25695618 Efficacy no The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in systolic blood pressure after hydrochlorothiazide treatment. Allele A is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele G. A Is Associated with decreased response to in people with Disease:Essential hypertension G +1444703599 rs11993031 CSMD1 hydrochlorothiazide 25695618 Efficacy no The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in systolic blood pressure after hydrochlorothiazide treatment. Allele T is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele A. T Is Associated with decreased response to in people with Disease:Essential hypertension A +1444703568 rs12505746 TET2 hydrochlorothiazide 25695618 Efficacy no The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in systolic blood pressure after hydrochlorothiazide treatment. Allele A is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele G. A Is Associated with decreased response to in people with Disease:Essential hypertension G +1444703611 rs11189015 SLIT1 hydrochlorothiazide 25695618 Efficacy no The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in systolic blood pressure after hydrochlorothiazide treatment. Allele C is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele G. C Is Associated with decreased response to in people with Disease:Essential hypertension G +1444703605 rs9285669 hydrochlorothiazide 25695618 Efficacy no The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in systolic blood pressure after hydrochlorothiazide treatment. Allele A is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele T. A Is Associated with decreased response to in people with Disease:Essential hypertension T +1444703625 rs9915451 ANKFN1 hydrochlorothiazide 25695618 Efficacy no The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in systolic blood pressure after hydrochlorothiazide treatment. Allele G is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele A. G Is Associated with decreased response to in people with Disease:Essential hypertension A +1444703722 rs9590353 UGGT2 hydrochlorothiazide 25695618 Efficacy no The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in diastolic blood pressure after hydrochlorothiazide treatment. Allele G is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele T. G Is Associated with decreased response to in people with Disease:Essential hypertension T +1444703731 rs113095083 ILKAP hydrochlorothiazide 25695618 Efficacy no The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in diastolic blood pressure after hydrochlorothiazide treatment. Allele C is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele T. C Is Associated with decreased response to in people with Disease:Essential hypertension T +1444703675 rs4431329 FBXL17 hydrochlorothiazide 25695618 Efficacy no The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in diastolic blood pressure after hydrochlorothiazide treatment. Allele T is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele A. T Is Associated with decreased response to in people with Disease:Essential hypertension A +1444703691 rs7706429 FBXL17 hydrochlorothiazide 25695618 Efficacy no The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in diastolic blood pressure after hydrochlorothiazide treatment. Allele G is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele A. G Is Associated with decreased response to in people with Disease:Essential hypertension A +1444703756 rs77876672 DIAPH3 hydrochlorothiazide 25695618 Efficacy no The SNP was discovered in two independent cohorts, although no SNPs reached genome wide significance. The authors then considered P<1 x10^-5 as a threshold for significance (based on the results from a Q-Q plot distribution reference line). Using this revised threshold the authors reported that this SNP was associated with a lower decrease in diastolic blood pressure after hydrochlorothiazide treatment. Allele C is associated with decreased response to hydrochlorothiazide in people with Essential hypertension as compared to allele T. C Is Associated with decreased response to in people with Disease:Essential hypertension T +1451228555 rs2231142 ABCG2 rosuvastatin 29950617 Metabolism/PK yes """The mean Css/D of RST and its metabolites were significantly higher in the subjects carrying the ABCG2 421A than in non-carriers of this; allele. The effects of this allele remained significant after being adjusted by the baseline characteristics and false discovery rate; (FDR) (Padj < 0.01, FDR < 0.05).""" Genotypes GT + TT are associated with increased concentrations of rosuvastatin as compared to genotype GG. GT + TT Are Associated with increased concentrations of GG +1451228580 rs4149056 SLCO1B1 rosuvastatin 29950617 Metabolism/PK no SLCO1B1 521T>C (rs4149056) in patients with one or two copies of the variant allele had a significantly high plasma exposure to RST, whereas the significance was not found after multiple testing (Padj = 0.0247, FDR = 0.0988), Genotypes CC + CT are associated with increased concentrations of rosuvastatin as compared to genotype TT. CC + CT Are Associated with increased concentrations of TT