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2 classes
2013-09-07
23,562,823
Sheu WH
2013-04-19
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/23562823
Genome-wide association study in a Chinese population with diabetic retinopathy.
Diabetic retinopathy
437 Chinese ancestry cases, 570 Chinese ancestry controls
329 Hispanic cases, 256 Hispanic controls
Illumina [~ 2166765] (imputed)
1
diabetic retinopathy
http://www.ebi.ac.uk/efo/EFO_0003770
GCST001977
Genome-wide genotyping array
null
false
NA
false
2013-11-14
23,648,065
Low SK
2013-05-04
Cancer Sci
www.ncbi.nlm.nih.gov/pubmed/23648065
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
Adverse response to chemotherapy (neutropenia/leucopenia) (cyclophosphamide)
168 Japanese ancestry cases, 335 Japanese ancestry controls
NA
Illumina [733202]
3
response to cyclophosphamide, response to antineoplastic agent
http://purl.obolibrary.org/obo/GO_1902518, http://purl.obolibrary.org/obo/GO_0097327
GCST002002
Genome-wide genotyping array
null
false
NA
false
2013-11-14
23,648,065
Low SK
2013-05-04
Cancer Sci
www.ncbi.nlm.nih.gov/pubmed/23648065
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs)
371 Japanese ancestry cases, 825 Japanese ancestry controls
NA
Illumina [733202]
12
response to antineoplastic agent, response to antimicrotubule agent
http://purl.obolibrary.org/obo/GO_0097327, http://www.ebi.ac.uk/efo/EFO_0005260
GCST002001
Genome-wide genotyping array
null
false
NA
false
2013-11-14
23,648,065
Low SK
2013-05-04
Cancer Sci
www.ncbi.nlm.nih.gov/pubmed/23648065
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel)
218 Japanese ancestry cases, 364 Japanese controls
NA
Illumina [733202]
8
response to antineoplastic agent, trait in response to paclitaxel
http://purl.obolibrary.org/obo/GO_0097327, http://purl.obolibrary.org/obo/OBA_2040073
GCST001999
Genome-wide genotyping array
null
false
NA
false
2013-11-14
23,648,065
Low SK
2013-05-04
Cancer Sci
www.ncbi.nlm.nih.gov/pubmed/23648065
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
Adverse response to chemotherapy (neutropenia/leucopenia) (docetaxel)
147 Japanese ancestry cases, 233 Japanese ancestry controls
NA
Illumina [733202]
7
response to docetaxel trihydrate, response to antineoplastic agent
http://purl.obolibrary.org/obo/GO_1902519, http://purl.obolibrary.org/obo/GO_0097327
GCST001995
Genome-wide genotyping array
null
false
NA
false
2013-11-14
23,648,065
Low SK
2013-05-04
Cancer Sci
www.ncbi.nlm.nih.gov/pubmed/23648065
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
Adverse response to chemotherapy (neutropenia/leucopenia) (all topoisomerase inhibitors)
106 Japanese ancestry cases, 187 Japanese ancestry controls
NA
Illumina [733202]
6
response to topoisomerase inhibitor, response to antineoplastic agent
http://purl.obolibrary.org/obo/GO_0072758, http://purl.obolibrary.org/obo/GO_0097327
GCST001994
Genome-wide genotyping array
null
false
NA
false
2013-11-14
23,648,065
Low SK
2013-05-04
Cancer Sci
www.ncbi.nlm.nih.gov/pubmed/23648065
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
Adverse response to chemotherapy (neutropenia/leucopenia) (camptothecin)
59 Japanese ancestry cases, 155 Japanese ancestry controls
NA
Illumina [733202]
3
response to camptothecin, response to antineoplastic agent
http://purl.obolibrary.org/obo/GO_1901563, http://purl.obolibrary.org/obo/GO_0097327
GCST001993
Genome-wide genotyping array
null
false
NA
false
2013-11-14
23,648,065
Low SK
2013-05-04
Cancer Sci
www.ncbi.nlm.nih.gov/pubmed/23648065
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
Adverse response to chemotherapy (neutropenia/leucopenia) (etoposide)
54 Japanese ancestry cases, 39 Japanese ancestry controls
NA
Illumina [733202]
4
response to etoposide, response to antineoplastic agent
http://purl.obolibrary.org/obo/GO_1902521, http://purl.obolibrary.org/obo/GO_0097327
GCST002000
Genome-wide genotyping array
null
false
NA
false
2013-11-14
23,648,065
Low SK
2013-05-04
Cancer Sci
www.ncbi.nlm.nih.gov/pubmed/23648065
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
Adverse response to chemotherapy (neutropenia/leucopenia) (carboplatin)
261 Japanese ancestry cases, 262 Japanese ancestry controls
NA
Illumina [733202]
9
response to carboplatin, response to antineoplastic agent
http://purl.obolibrary.org/obo/GO_0097328, http://purl.obolibrary.org/obo/GO_0097327
GCST002004
Genome-wide genotyping array
null
false
NA
false
2013-11-14
23,648,065
Low SK
2013-05-04
Cancer Sci
www.ncbi.nlm.nih.gov/pubmed/23648065
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
Adverse response to chemotherapy (neutropenia/leucopenia) (all antimetabolite drugs)
294 Japanese ancestry cases, 2,249 Japanese ancestry controls
NA
Illumina [733202]
6
response to antineoplastic agent, response to antimetabolite
http://purl.obolibrary.org/obo/GO_0097327, http://purl.obolibrary.org/obo/GO_0097329
GCST002005
Genome-wide genotyping array
null
false
NA
false
2013-11-14
23,648,065
Low SK
2013-05-04
Cancer Sci
www.ncbi.nlm.nih.gov/pubmed/23648065
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel + carboplatin)
150 Japanese ancestry cases, 166 Japanese ancestry controls
NA
Illumina [733202]
7
response to carboplatin, response to antineoplastic agent, trait in response to paclitaxel
http://purl.obolibrary.org/obo/GO_0097328, http://purl.obolibrary.org/obo/GO_0097327, http://purl.obolibrary.org/obo/OBA_2040073
GCST002006
Genome-wide genotyping array
null
false
NA
false
2013-11-14
23,648,065
Low SK
2013-05-04
Cancer Sci
www.ncbi.nlm.nih.gov/pubmed/23648065
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
Adverse response to chemotherapy (neutropenia/leucopenia) (cisplatin)
176 Japanese ancestry cases, 471 Japanese ancestry controls
NA
Illumina [733202]
7
response to cisplatin, response to antineoplastic agent
http://purl.obolibrary.org/obo/GO_0072718, http://purl.obolibrary.org/obo/GO_0097327
GCST002007
Genome-wide genotyping array
null
false
NA
false
2013-11-14
23,648,065
Low SK
2013-05-04
Cancer Sci
www.ncbi.nlm.nih.gov/pubmed/23648065
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
Adverse response to chemotherapy (neutropenia/leucopenia) (all anthracycline-based drugs)
184 Japanese ancestry cases, 459 Japanese ancestry controls
NA
Illumina [733202]
6
response to antineoplastic agent, response to anthracycline-based chemotherapy
http://purl.obolibrary.org/obo/GO_0097327, http://www.ebi.ac.uk/efo/EFO_0005257
GCST002008
Genome-wide genotyping array
null
false
NA
false
2013-11-14
23,648,065
Low SK
2013-05-04
Cancer Sci
www.ncbi.nlm.nih.gov/pubmed/23648065
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
Adverse response to chemotherapy (neutropenia/leucopenia) (doxorubicin)
83 Japanese ancestry cases, 66 Japanese ancestry controls
NA
Illumina [733202]
3
response to antineoplastic agent, response to doxorubicin
http://purl.obolibrary.org/obo/GO_0097327, http://purl.obolibrary.org/obo/GO_1902520
GCST002009
Genome-wide genotyping array
null
false
NA
false
2013-11-14
23,648,065
Low SK
2013-05-04
Cancer Sci
www.ncbi.nlm.nih.gov/pubmed/23648065
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
Adverse response to chemotherapy (neutropenia/leucopenia) (epirubicin)
83 Japanese ancestry cases, 370 Japanese ancestry controls
NA
Illumina [733202]
5
response to 4'-epidoxorubicin, response to antineoplastic agent
http://purl.obolibrary.org/obo/GO_1902522, http://purl.obolibrary.org/obo/GO_0097327
GCST001996
Genome-wide genotyping array
null
false
NA
false
2013-11-14
23,648,065
Low SK
2013-05-04
Cancer Sci
www.ncbi.nlm.nih.gov/pubmed/23648065
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
Adverse response to chemotherapy (neutropenia/leucopenia) (5-fluorouracil)
177 Japanese ancestry cases, 952 Japanese ancestry controls
NA
Illumina [733202]
4
response to 5-fluorouracil, response to antineoplastic agent
http://purl.obolibrary.org/obo/GO_0036275, http://purl.obolibrary.org/obo/GO_0097327
GCST001997
Genome-wide genotyping array
null
false
NA
false
2013-11-14
23,648,065
Low SK
2013-05-04
Cancer Sci
www.ncbi.nlm.nih.gov/pubmed/23648065
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
Adverse response to chemotherapy (neutropenia/leucopenia) (all platinum-based drugs)
428 Japanese ancestry cases, 743 Japanese ancestry controls
NA
Illumina [733202]
6
response to antineoplastic agent, trait in response to platinum
http://purl.obolibrary.org/obo/GO_0097327, http://purl.obolibrary.org/obo/OBA_2040037
GCST001998
Genome-wide genotyping array
null
false
NA
false
2013-11-14
23,648,065
Low SK
2013-05-04
Cancer Sci
www.ncbi.nlm.nih.gov/pubmed/23648065
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
Adverse response to chemotherapy (neutropenia/leucopenia) (gemcitabine)
80 Japanese ancestry cases, 226 Japanese ancestry controls
NA
Illumina [733202]
5
response to gemcitabine, response to antineoplastic agent
http://purl.obolibrary.org/obo/GO_0036272, http://purl.obolibrary.org/obo/GO_0097327
GCST002003
Genome-wide genotyping array
null
false
NA
false
2011-05-11
21,478,494
Nan H
2011-04-09
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/21478494
Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk.
Cutaneous nevi
9,136 European ancestry individuals
3,581 European ancestry individuals
Affymetrix, Illumina [2318094] (imputed)
3
nevus
http://www.ebi.ac.uk/efo/EFO_0000625
GCST001034
Genome-wide genotyping array
null
false
NA
false
2014-03-14
23,982,368
Qi L
2013-08-28
JAMA
www.ncbi.nlm.nih.gov/pubmed/23982368
Association between a genetic variant related to glutamic acid metabolism and coronary heart disease in individuals with type 2 diabetes.
Cardiovascular heart disease in diabetics
669 European ancestry cases, 1,641 European ancestry controls
848 European ancestry cases, 1,030 European ancestry controls
Affymetrix [2543016]
1
cardiovascular disease
http://www.ebi.ac.uk/efo/EFO_0000319
GCST002153
Genome-wide genotyping array
null
false
NA
false
2013-06-06
23,362,303
Wu JH
2013-01-29
Circ Cardiovasc Genet
www.ncbi.nlm.nih.gov/pubmed/23362303
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.
Palmitic acid (16:0) levels
8,961 European ancestry individuals
null
Affymetrix, Illumina [~ 2500000] (imputed)
12
fatty acid amount
http://purl.obolibrary.org/obo/OBA_VT0010046
GCST001838
Genome-wide genotyping array
null
true
http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/GCST001001-GCST002000/GCST001838
false
2013-06-06
23,362,303
Wu JH
2013-01-29
Circ Cardiovasc Genet
www.ncbi.nlm.nih.gov/pubmed/23362303
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.
Palmitoleic acid (16:1n-7) levels
8,961 European ancestry individuals
null
Affymetrix, Illumina [~ 2500000] (imputed)
15
fatty acid amount
http://purl.obolibrary.org/obo/OBA_VT0010046
GCST001841
Genome-wide genotyping array
null
true
http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/GCST001001-GCST002000/GCST001841
false
2013-06-06
23,362,303
Wu JH
2013-01-29
Circ Cardiovasc Genet
www.ncbi.nlm.nih.gov/pubmed/23362303
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.
Stearic acid (18:0) levels
8,961 European ancestry individuals
null
Affymetrix, Illumina [~ 2500000] (imputed)
11
fatty acid amount
http://purl.obolibrary.org/obo/OBA_VT0010046
GCST001840
Genome-wide genotyping array
null
true
http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/GCST001001-GCST002000/GCST001840
false
2013-06-05
23,362,303
Wu JH
2013-01-29
Circ Cardiovasc Genet
www.ncbi.nlm.nih.gov/pubmed/23362303
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.
Oleic acid (18:1n-9) levels
8,961 European ancestry individuals
null
Affymetrix, Illumina [~ 2500000] (imputed)
9
fatty acid amount
http://purl.obolibrary.org/obo/OBA_VT0010046
GCST001834
Genome-wide genotyping array
null
true
http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/GCST001001-GCST002000/GCST001834
false
2014-03-14
23,983,088
Miller FW
2013-08-27
Arthritis Rheum
www.ncbi.nlm.nih.gov/pubmed/23983088
Genome-wide association study of dermatomyositis reveals genetic overlap with other autoimmune disorders.
Dermatomyositis
1,178 European ancestry cases, 4,724 European ancestry controls
NA
Illumina [up to 242876]
1
dermatomyositis
http://www.ebi.ac.uk/efo/EFO_0000398
GCST002151
Genome-wide genotyping array
null
false
NA
false
2012-09-20
22,823,124
Verweij KJ
2012-07-24
Addict Biol
www.ncbi.nlm.nih.gov/pubmed/22823124
The genetic aetiology of cannabis use initiation: a meta-analysis of genome-wide association studies and a SNP-based heritability estimation.
Cannabis use (initiation)
10,091 individuals from 4,622 families
NA
Illumina [~ 2400000] (imputed)
6
drug dependence
http://www.ebi.ac.uk/efo/EFO_0003890
GCST001616
Genome-wide genotyping array
null
false
NA
false
2012-05-23
22,466,613
Sun L
2012-04-01
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/22466613
Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis.
Cystic fibrosis (meconium ileus)
3,763 European ancestry cases
2,372 European ancestry cases
Illumina [7245292] (imputed)
0
cystic fibrosis associated meconium ileus
http://www.ebi.ac.uk/efo/EFO_0004608
GCST001468
Genome-wide genotyping array
null
true
http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/GCST001001-GCST002000/GCST001468
false
2012-08-15
22,705,344
Sobrin L
2012-06-15
Ophthalmology
www.ncbi.nlm.nih.gov/pubmed/22705344
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
Age-related macular degeneration (choroidal neovascularisation)
1,775 European ancestry choroidal neovascularization cases, 4,134 European ancestry controls
4,515 European and unknown ancestry choroidal neovascularization cases, 15,240 European and unknown ancestry controls
Affymetrix, Illumina [6036699] (imputed)
6
wet macular degeneration
http://www.ebi.ac.uk/efo/EFO_0004683
GCST001579
Genome-wide genotyping array
null
false
NA
false
2012-08-15
22,705,344
Sobrin L
2012-06-15
Ophthalmology
www.ncbi.nlm.nih.gov/pubmed/22705344
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
Age-related macular degeneration (geographic atrophy)
819 European ancestry geographic atrophy cases, 4,134 European ancestry controls
NA
Affymetrix, Illumina [6036699] (imputed)
9
atrophic macular degeneration
http://www.ebi.ac.uk/efo/EFO_1001492
GCST001578
Genome-wide genotyping array
null
false
NA
false
2012-08-30
22,705,344
Sobrin L
2012-06-15
Ophthalmology
www.ncbi.nlm.nih.gov/pubmed/22705344
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
Age-related macular degeneration (CNV vs. GA)
1,775 European ancestry choroidal neovascularization cases, 819 European ancestry geographic atrophy cases,
4,515 European and unknown ancestry choroidal neovascularization cases, 868 European and unknown ancestry geographic atrophy cases
Affymetrix, Illumina [6036699] (imputed)
1
atrophic macular degeneration, wet macular degeneration
http://www.ebi.ac.uk/efo/EFO_1001492, http://www.ebi.ac.uk/efo/EFO_0004683
GCST001577
Genome-wide genotyping array
null
false
NA
false
2013-07-26
23,512,250
Xu H
2013-03-19
J Natl Cancer Inst
www.ncbi.nlm.nih.gov/pubmed/23512250
Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations.
Acute lymphoblastic leukemia (childhood)
972 European ancestry cases, 1,386 European ancestry controls, 89 African American cases, 1,363 African American controls, 305 Hispanic cases, 1,008 Hispanic controls
574 European ancestry cases, 2,601 European ancestry controls, 128 African American cases, 1,075 African American controls, 143 Hispanic cases, 640 Hispanic controls
Affymetrix [709059]
3
acute lymphoblastic leukemia
http://www.ebi.ac.uk/efo/EFO_0000220
GCST001912
Genome-wide genotyping array
null
false
NA
false
2012-08-15
22,693,459
Li R
2012-05-31
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/22693459
Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
Male-pattern baldness
3,891 European ancestry cases, 8,915 European ancestry controls
NA
Affymetrix, Illumina [2391230] (imputed)
8
androgenetic alopecia
http://www.ebi.ac.uk/efo/EFO_0004191
GCST001548
Genome-wide genotyping array
null
false
NA
false
2012-06-02
22,504,421
Bis JC
2012-04-15
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/22504421
Common variants at 12q14 and 12q24 are associated with hippocampal volume.
Hippocampal volume
9,232 European ancestry individuals
2,318 European ancestry individuals
Affymetrix, Illumina [~ 2500000] (imputed)
5
hippocampal volume
http://www.ebi.ac.uk/efo/EFO_0005035
GCST001485
Genome-wide genotyping array
null
false
NA
false
2012-07-26
22,694,930
Li X
2012-06-11
J Allergy Clin Immunol
www.ncbi.nlm.nih.gov/pubmed/22694930
Genome-wide association studies of asthma indicate opposite immunopathogenesis direction from autoimmune diseases.
Asthma
813 European ancestry cases, 1,011 European ancestry controls
TENOR and GABRIEL studies
Illumina [474271]
0
asthma
http://purl.obolibrary.org/obo/MONDO_0004979
GCST001564
Genome-wide genotyping array
null
false
NA
false
2013-05-26
23,454,411
Lin MT
2013-02-27
Transl Res
www.ncbi.nlm.nih.gov/pubmed/23454411
A genome-wide association analysis identifies novel susceptibility loci for coronary arterial lesions in patients with Kawasaki disease.
Coronary arterial lesions in patients with Kawasaki disease
64 East Asian ancestry serious cases, 70 East Asian ancestry minor cases
117 East Asian ancestry serious cases, 128 East Asian ancestry minor cases
Affymetrix [470949]
0
coronary aneurysm
http://www.ebi.ac.uk/efo/EFO_1000881
GCST001878
Genome-wide genotyping array
null
false
NA
false
2015-05-19
21,685,187
Siedlinski M
2011-06-16
Thorax
www.ncbi.nlm.nih.gov/pubmed/21685187
Genome-wide association study of smoking behaviours in patients with COPD.
Age at smoking initiation in chronic obstructive pulmonary disease
3,397 European ancestry cases
NA
Illumina [~ 6300000] (imputed)
21
smoking initiation
http://www.ebi.ac.uk/efo/EFO_0005670
GCST001113
Genome-wide genotyping array
null
false
NA
false
2015-05-19
21,685,187
Siedlinski M
2011-06-16
Thorax
www.ncbi.nlm.nih.gov/pubmed/21685187
Genome-wide association study of smoking behaviours in patients with COPD.
Smoking cessation in chronic obstructive pulmonary disease
1,907 European ancestry former smoker cases, 1,164 European ancestry current smoker cases
NA
Illumina [~ 6300000] (imputed)
8
smoking cessation
http://www.ebi.ac.uk/efo/EFO_0004319
GCST001108
Genome-wide genotyping array
null
false
NA
false
2015-05-18
21,685,187
Siedlinski M
2011-06-16
Thorax
www.ncbi.nlm.nih.gov/pubmed/21685187
Genome-wide association study of smoking behaviours in patients with COPD.
Current cigarettes per day in chronic obstructive pulmonary disease
1,113 European ancestry cases
NA
Illumina [~ 6300000] (imputed)
7
smoking behavior trait
http://purl.obolibrary.org/obo/OBA_2050116
GCST001111
Genome-wide genotyping array
null
false
NA
false
2015-05-18
21,685,187
Siedlinski M
2011-06-16
Thorax
www.ncbi.nlm.nih.gov/pubmed/21685187
Genome-wide association study of smoking behaviours in patients with COPD.
Lifetime average cigarettes per day in chronic obstructive pulmonary disease
3,440 European ancestry cases
NA
Illumina [~ 6300000] (imputed)
11
smoking behavior trait
http://purl.obolibrary.org/obo/OBA_2050116
GCST001112
Genome-wide genotyping array
null
false
NA
false
2012-12-11
22,960,999
Wu C
2012-09-09
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/22960999
Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.
Esophageal cancer (squamous cell)
2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls
8,092 Chinese ancestry cases, 8,620 Chinese ancestry controls
NR [NR]
7
squamous cell carcinoma, esophageal carcinoma
http://www.ebi.ac.uk/efo/EFO_0000707, http://www.ebi.ac.uk/efo/EFO_0002916
GCST001674
Genome-wide genotyping array
null
false
NA
false
2012-12-11
22,960,999
Wu C
2012-09-09
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/22960999
Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.
Esophageal cancer (alcohol interaction)
2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls
8,092 Chinese ancestry cases, 8,620 Chinese ancestry controls
NR [NR]
4
esophageal carcinoma
http://www.ebi.ac.uk/efo/EFO_0002916
GCST001672
Genome-wide genotyping array
null
false
NA
true
2012-12-04
23,021,708
Kerns SL
2012-09-26
Int J Radiat Oncol Biol Phys
www.ncbi.nlm.nih.gov/pubmed/23021708
A 2-stage genome-wide association study to identify single nucleotide polymorphisms associated with development of erectile dysfunction following radiation therapy for prostate cancer.
Erectile dysfunction and prostate cancer treatment
132 African American, European, Hispanic/Latin American, East Asian and South Asian ancestry cases, 103 African American, European, Hispanic/Latin American, East Asian ancestry and South Asian ancestry controls
128 African American, European, Hispanic/Latin American, East Asian and South Asian ancestry cases, 102 African American, European, Hispanic/Latin American, East Asian and South Asian ancestry controls
Affymetrix [614453]
0
response to radiation, prostate carcinoma, erectile dysfunction
http://purl.obolibrary.org/obo/GO_0009314, http://www.ebi.ac.uk/efo/EFO_0001663, http://www.ebi.ac.uk/efo/EFO_0004234
GCST001700
Genome-wide genotyping array
null
false
NA
false
2012-05-25
22,503,698
Bhatnagar R
2012-04-12
Oral Oncol
www.ncbi.nlm.nih.gov/pubmed/22503698
Genome-wide disease association study in chewing tobacco associated oral cancers.
Oral cancers (chewing tobacco related)
55 South Asian ancestry cases, 92 South Asian ancestry controls
NA
Illumina [316018]
0
matrix metalloproteinase measurement, mouth neoplasm
http://www.ebi.ac.uk/efo/EFO_0004744, http://www.ebi.ac.uk/efo/EFO_0003868
GCST001480
Genome-wide genotyping array
null
false
NA
false
2012-05-25
22,509,378
Burri A
2012-04-11
PLoS One
www.ncbi.nlm.nih.gov/pubmed/22509378
A genome-wide association study of female sexual dysfunction.
Sexual dysfunction (female)
1,104 European ancestry twins
NA
Illumina [2287762] (imputed)
3
sexual dysfunction
http://www.ebi.ac.uk/efo/EFO_0004714
GCST001477
Genome-wide genotyping array
null
false
NA
false
2012-09-12
22,792,071
Zheng HF
2012-07-05
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/22792071
WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk.
Bone mineral density
5,672 European ancestry individuals
NA
Affymetrix, Illumina [~ 2500000] (imputed)
1
bone tissue density
http://purl.obolibrary.org/obo/OBA_1000110
GCST001595
Genome-wide genotyping array
null
false
NA
false
2012-09-12
22,792,071
Zheng HF
2012-07-05
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/22792071
WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk.
Cortical thickness
5,878 European ancestry individuals
1,032 European ancestry individuals
Affymetrix, Illumina [~ 2500000] (imputed)
2
cortical thickness
http://www.ebi.ac.uk/efo/EFO_0004840
GCST001593
Genome-wide genotyping array
null
false
NA
false
2012-09-18
22,792,221
Takamoto M
2012-07-05
PLoS One
www.ncbi.nlm.nih.gov/pubmed/22792221
Common variants on chromosome 9p21 are associated with normal tension glaucoma.
Glaucoma
286 Japanese ancestry cases, 557 Japanese ancestry controls
334 Japanese ancestry cases, 701 Japanese ancestry controls
Affymetrix [531009]
1
glaucoma
http://purl.obolibrary.org/obo/MONDO_0005041
GCST001596
Genome-wide genotyping array
null
false
NA
false
2012-04-20
22,445,761
Kurose K
2012-03-23
Psychiatry Res
www.ncbi.nlm.nih.gov/pubmed/22445761
Genome-wide association study of SSRI/SNRI-induced sexual dysfunction in a Japanese cohort with major depression.
Sexual dysfunction (SSRI/SNRI-related)
201 Japanese ancestry individuals
NA
Affymetrix [186320]
5
sexual dysfunction
http://www.ebi.ac.uk/efo/EFO_0004714
GCST001453
Genome-wide genotyping array
null
false
NA
false
2012-08-17
22,589,738
Fox CS
2012-05-10
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/22589738
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
Subcutaneous adipose tissue
5,560 European ancestry female individuals, 4,997 European ancestry male individuals
NA
Affymetrix, Illumina [2500000] (imputed)
39
subcutaneous adipose tissue quality
http://purl.obolibrary.org/obo/OBA_1000023
GCST001521
Genome-wide genotyping array
null
false
NA
false
2012-08-17
22,589,738
Fox CS
2012-05-10
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/22589738
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
Visceral fat
5,560 European ancestry female individuals, 4,997 European ancestry male individuals
NA
Affymetrix, Illumina [2500000] (imputed)
40
visceral adipose tissue quantity
http://purl.obolibrary.org/obo/OBA_2045224
GCST001525
Genome-wide genotyping array
null
false
NA
false
2012-08-17
22,589,738
Fox CS
2012-05-10
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/22589738
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
Visceral adipose tissue/subcutaneous adipose tissue ratio
5,560 European ancestry female individuals, 4,997 European ancestry male individuals
NA
Affymetrix, Illumina [2500000] (imputed)
42
visceral adipose tissue quantity
http://purl.obolibrary.org/obo/OBA_2045224
GCST001524
Genome-wide genotyping array
null
false
NA
false
2012-08-17
22,589,738
Fox CS
2012-05-10
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/22589738
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
Visceral adipose tissue adjusted for BMI
5,560 European ancestry female individuals, 4,997 European ancestry male individuals
NA
Affymetrix, Illumina [2500000] (imputed)
45
visceral adipose tissue quantity, body mass index
http://purl.obolibrary.org/obo/OBA_2045224, http://www.ebi.ac.uk/efo/EFO_0004340
GCST001523
Genome-wide genotyping array
null
false
NA
false
2012-10-16
22,864,933
O'Donnell PH
2012-01-03
Cancer
www.ncbi.nlm.nih.gov/pubmed/22864933
Identification of novel germline polymorphisms governing capecitabine sensitivity.
Capecitabine sensitivity
Up to 84 East Asian ancestry lymphoblastoid cell lines, up to 164 European ancestry lymphoblastoid cell lines, up to 173 African ancestry lymphoblastoid cell lines, up to 82 African American lymphoblastoid cell lines
NA
NR [~ 2000000]
22
response to antineoplastic agent
http://purl.obolibrary.org/obo/GO_0097327
GCST001368
Genome-wide genotyping array
null
false
NA
false
2011-07-29
21,750,702
Schosser A
2011-07-05
PLoS One
www.ncbi.nlm.nih.gov/pubmed/21750702
Genomewide association scan of suicidal thoughts and behaviour in major depression.
Suicidal ideation
2,023 European ancestry major depressive disorder cases
1,531 European ancestry major depressive disorder cases
Illumina [532774]
0
suicidal ideation
http://www.ebi.ac.uk/efo/EFO_0004320
GCST001141
Genome-wide genotyping array
null
false
NA
false
2012-04-27
22,424,883
Imboden M
2012-03-15
J Allergy Clin Immunol
www.ncbi.nlm.nih.gov/pubmed/22424883
Genome-wide association study of lung function decline in adults with and without asthma.
Pulmonary function decline
1,441 European ancestry asthma cases, 2,677 European ancestry controls
1,160 European ancestry asthma cases, 10,858 European ancestry controls
Illumina [~ 2500000] (imputed)
39
FEV/FVC ratio, forced expiratory volume
http://www.ebi.ac.uk/efo/EFO_0004713, http://www.ebi.ac.uk/efo/EFO_0004314
GCST001444
Genome-wide genotyping array
null
false
NA
false
2011-09-08
21,829,389
Barbalic M
2011-08-04
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21829389
Genome-wide association analysis of incident coronary heart disease (CHD) in African Americans: a short report.
Coronary heart disease
362 African American cases, 2,543 African American controls
862 African American female cases, 7,293 African American female controls
Affymetrix [NR]
0
coronary artery disease
http://www.ebi.ac.uk/efo/EFO_0001645
GCST001190
Genome-wide genotyping array
null
false
NA
false
2012-03-08
22,318,345
Cha PC
2012-02-09
J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/22318345
A genome-wide association study identifies SNP in DCC is associated with gallbladder cancer in the Japanese population.
Gallbladder cancer
41 Japanese ancestry cases, 866 Japanese ancestry controls
30 Japanese ancestry cases, 898 Japanese ancestry controls
Illumina [425706] (imputed)
5
gallbladder neoplasm
http://www.ebi.ac.uk/efo/EFO_0004606
GCST001404
Genome-wide genotyping array
null
true
http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/GCST001001-GCST002000/GCST001404
false
2014-02-25
23,894,154
Kohler A
2013-07-26
J Clin Endocrinol Metab
www.ncbi.nlm.nih.gov/pubmed/23894154
Genome-wide association study on differentiated thyroid cancer.
Thyroid cancer
690 European ancestry cases, 497 European ancestry controls
2,958 European ancestry cases, 3,727 European ancestry controls
Illumina [572042]
2
thyroid carcinoma
http://www.ebi.ac.uk/efo/EFO_0002892
GCST002102
Genome-wide genotyping array
null
false
NA
false
2012-09-11
22,792,070
Medina-Gomez C
2012-07-05
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/22792070
Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity and age-specific effects at the WNT16 locus.
Bone mineral density
1,834 European ancestry children, 825 children
11,052 European ancestry individuals
Illumina [3021329] (imputed)
2
bone tissue density
http://purl.obolibrary.org/obo/OBA_1000110
GCST001594
Genome-wide genotyping array
null
false
NA
false
2010-12-03
20,966,902
Croteau-Chonka DC
2010-10-21
Obesity (Silver Spring)
www.ncbi.nlm.nih.gov/pubmed/20966902
Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
Weight
1,780 Filipino ancestry females
NA
Affymetrix [2073674] (imputed)
7
body weight
http://www.ebi.ac.uk/efo/EFO_0004338
GCST000837
Genome-wide genotyping array
null
false
NA
false
2010-12-03
20,966,902
Croteau-Chonka DC
2010-10-21
Obesity (Silver Spring)
www.ncbi.nlm.nih.gov/pubmed/20966902
Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
Waist circumference
1,779 Filipino ancestry females
NA
Affymetrix [2073674] (imputed)
8
waist circumference
http://purl.obolibrary.org/obo/OBA_1001085
GCST000838
Genome-wide genotyping array
null
false
NA
false
2010-12-03
20,966,902
Croteau-Chonka DC
2010-10-21
Obesity (Silver Spring)
www.ncbi.nlm.nih.gov/pubmed/20966902
Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
Body mass index
1,780 Filipino ancestry females
NA
Affymetrix [2073674] (imputed)
6
body mass index
http://www.ebi.ac.uk/efo/EFO_0004340
GCST000840
Genome-wide genotyping array
null
false
NA
false
2010-12-03
20,966,902
Croteau-Chonka DC
2010-10-21
Obesity (Silver Spring)
www.ncbi.nlm.nih.gov/pubmed/20966902
Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
Height
1,792 Filipino ancestry females
NA
Affymetrix [2073674] (imputed)
7
body height
http://purl.obolibrary.org/obo/OBA_VT0001253
GCST000839
Genome-wide genotyping array
null
false
NA
false
2011-01-10
21,105,107
Clifford RJ
2010-12-01
Hepatology
www.ncbi.nlm.nih.gov/pubmed/21105107
Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma.
Hepatocellular carcinoma
180 Korean ancestry cases, 271 Korean ancestry controls
206 Korean ancestry cases, 416 East Asian ancestry controls,
Affymetrix [658897]
3
hepatocellular carcinoma
http://www.ebi.ac.uk/efo/EFO_0000182
GCST000902
Genome-wide genotyping array
null
false
NA
false
2012-03-03
22,322,875
Kim SJ
2012-02-09
Circ J
www.ncbi.nlm.nih.gov/pubmed/22322875
Genetic association of short sleep duration with hypertension incidence--a 6-year follow-up in the Korean genome and epidemiology study.
Hypertension risk in short sleep duration
4,965 Korean ancestry individuals
NA
Affymetrix [334750]
3
hypertension
http://www.ebi.ac.uk/efo/EFO_0000537
GCST001405
Genome-wide genotyping array
null
false
NA
false
2012-03-13
22,333,899
Wei WH
2012-02-15
Eur J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/22333899
Genome-wide analysis of epistasis in body mass index using multiple human populations.
Body mass index (SNP x SNP interaction)
3,653 European ancestry individuals
5,071 European ancestry individuals
Illumina [NR]
0
body mass index
http://www.ebi.ac.uk/efo/EFO_0004340
GCST001409
Genome-wide genotyping array
null
false
NA
false
2011-01-04
21,094,521
Wan YI
2010-11-10
J Allergy Clin Immunol
www.ncbi.nlm.nih.gov/pubmed/21094521
A genome-wide association study to identify genetic determinants of atopy in subjects from the United Kingdom.
Atopy
1,083 European ancestry cases, 2,770 European ancestry controls
Up to 1,058 European ancestry cases, 2,254 European ancestry controls
Illumina [459334]
0
atopy
http://www.ebi.ac.uk/efo/EFO_0002686
GCST000870
Genome-wide genotyping array
null
false
NA
false
2011-01-15
21,131,975
Purdue MP
2010-12-05
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/21131975
Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3.
Renal cell carcinoma
3,772 European ancestry cases, 8,505 European ancestry controls
2,198 European ancestry cases, 4,918 European ancestry controls
Illumina [586069]
4
renal cell carcinoma
http://www.ebi.ac.uk/efo/EFO_0000681
GCST000907
Genome-wide genotyping array
null
false
NA
false
2011-01-11
21,124,317
Wang K
2010-12-01
Nature
www.ncbi.nlm.nih.gov/pubmed/21124317
Integrative genomics identifies LMO1 as a neuroblastoma oncogene.
Neuroblastoma
1,627 European ancestry child cases, 3,254 European ancestry child controls
624 European ancestry child cases, 2,843 European ancestry child controls
Illumina [480279]
3
neuroblastoma
http://www.ebi.ac.uk/efo/EFO_0000621
GCST000901
Genome-wide genotyping array
null
false
NA
false
2013-04-11
23,314,186
Crosslin DR
2013-03-03
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/23314186
Genetic variation associated with circulating monocyte count in the eMERGE Network.
Monocyte count
9,849 European ancestry individuals, 894 African ancestry individuals, 271 individuals
NA
Illumina [NR]
6
monocyte count
http://www.ebi.ac.uk/efo/EFO_0005091
GCST001887
Genome-wide genotyping array
null
false
NA
false
2011-01-12
21,106,707
Gu J
2010-11-24
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/21106707
A genetic variant near the PMAIP1/Noxa gene is associated with increased bleomycin sensitivity.
Response to bleomycin (chromatid breaks)
673 European ancestry individuals
834 European ancestry individuals
Illumina [539437]
3
chromatid break measurement, response to antibiotic, trait in response to bleomycin
http://www.ebi.ac.uk/efo/EFO_0007593, http://purl.obolibrary.org/obo/GO_0046677, http://purl.obolibrary.org/obo/OBA_2040015
GCST000882
Genome-wide genotyping array
null
false
NA
false
2011-01-08
21,098,978
Sherva R
2010-11-25
J Alzheimers Dis
www.ncbi.nlm.nih.gov/pubmed/21098978
Identification of novel candidate genes for Alzheimer's disease by autozygosity mapping using genome wide SNP data.
Alzheimer's disease
124 Isreali Arab cases, 142 Israeli Arab controls
1,930 European ancestry cases, 1,312 European ancestry controls, 931 European ancestry and Ashkenazi Jewish cases, 1,104 European ancestry and Ashkenazi Jewish controls
Illumina [~ 300000]
0
Alzheimer disease
http://purl.obolibrary.org/obo/MONDO_0004975
GCST000886
Genome-wide genotyping array
null
false
NA
false
2010-12-09
21,118,971
Wu C
2010-11-30
Cancer Res
www.ncbi.nlm.nih.gov/pubmed/21118971
Genome-wide interrogation identifies YAP1 variants associated with survival of small-cell lung cancer patients.
Small-cell lung cancer (survival)
245 Han Chinese ancestry cases
305 Han Chinese ancestry cases
Affymetrix [265996]
1
small cell lung carcinoma
http://www.ebi.ac.uk/efo/EFO_0000702
GCST000896
Genome-wide genotyping array
null
false
NA
false
2011-01-07
21,095,009
Li YJ
2010-11-20
Ophthalmology
www.ncbi.nlm.nih.gov/pubmed/21095009
Genome-wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese.
Myopia (pathological)
65 Singaporean Chinese child cases, 238 Singaporean Chinese child controls, 222 Singaporean Chinese adult cases, 455 Singaporean Chinese adult cases
959 Japanese ancestry cases, 2,128 Japanese ancestry controls
Illumina [459687]
1
pathological myopia
http://www.ebi.ac.uk/efo/EFO_0004207
GCST000878
Genome-wide genotyping array
null
false
NA
false
2011-01-14
21,087,763
Carrasquillo MM
2010-12-10
Am J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/21087763
Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma.
Progranulin levels
518 European ancestry controls
459 European ancestry controls
Illumina [313504]
1
progranulin measurement
http://www.ebi.ac.uk/efo/EFO_0004625
GCST000911
Genome-wide genotyping array
null
false
NA
false
2011-01-08
21,104,366
Tan L
2010-11-23
Sci China Life Sci
www.ncbi.nlm.nih.gov/pubmed/21104366
A genome-wide association analysis implicates SOX6 as a candidate gene for wrist bone mass.
Bone mineral density (wrist)
1,000 European ancestry individuals
1,628 Chinese ancestry individuals
Affymetrix [379319]
1
bone measurement
http://www.ebi.ac.uk/efo/EFO_0004512
GCST000881
Genome-wide genotyping array
null
false
NA
false
2011-12-15
22,072,270
Wang KS
2011-11-11
J Neural Transm (Vienna)
www.ncbi.nlm.nih.gov/pubmed/22072270
Genome-wide association study identifies 5q21 and 9p24.1 (KDM4C) loci associated with alcohol withdrawal symptoms.
Alcohol withdrawal symptoms
461 European ancestry cases, 408 European ancestry controls
318 European ancestry cases, 507 European ancestry controls
Illumina [778974]
0
alcohol withdrawal
http://www.ebi.ac.uk/efo/EFO_0004777
GCST001319
Genome-wide genotyping array
null
false
NA
false
2011-01-15
21,151,127
Melum E
2010-12-12
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/21151127
Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci.
Primary sclerosing cholangitis
715 European ancestry cases, 2,962 European ancestry controls
1,025 European ancestry cases, 2,174 European ancestry controls
Affymetrix [2466182] (imputed)
2
sclerosing cholangitis
http://www.ebi.ac.uk/efo/EFO_0004268
GCST000915
Genome-wide genotyping array
null
false
NA
false
2011-08-12
21,757,653
Lovely RS
2011-07-14
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/21757653
Assessment of genetic determinants of the association of γ' fibrinogen in relation to cardiovascular disease.
Fibrinogen
3,042 individuals
NA
Affymetrix [~ 2500000] (imputed)
5
circulating fibrinogen levels
http://purl.obolibrary.org/obo/OBA_0000061
GCST001158
Genome-wide genotyping array
null
false
NA
false
2013-09-21
23,667,675
Tanikawa C
2013-05-07
PLoS One
www.ncbi.nlm.nih.gov/pubmed/23667675
Genome wide association study of age at menarche in the Japanese population.
Menarche (age at onset)
15,495 Japanese ancestry females
NA
Illumina [2310762] (imputed)
8
age at menarche
http://www.ebi.ac.uk/efo/EFO_0004703
GCST002013
Genome-wide genotyping array
null
false
NA
false
2011-08-19
21,795,503
Alkelai A
2011-07-27
FASEB J
www.ncbi.nlm.nih.gov/pubmed/21795503
Identification of new schizophrenia susceptibility loci in an ethnically homogeneous, family-based, Arab-Israeli sample.
Schizophrenia
189 Arab-Israeli founder individuals from 57 families
627 European ancestry cases, 541 European ancestry controls
Illumina [307472]
0
schizophrenia
http://purl.obolibrary.org/obo/MONDO_0005090
GCST001176
Genome-wide genotyping array
null
false
NA
false
2011-12-02
22,051,697
Du R
2011-11-01
J Allergy Clin Immunol
www.ncbi.nlm.nih.gov/pubmed/22051697
Genome-wide association study reveals class I MHC-restricted T cell-associated molecule gene (CRTAM) variants interact with vitamin D levels to affect asthma exacerbations.
Asthma
395 European ancestry child cases
584 Hispanic child cases
Illumina [534290]
0
asthma
http://purl.obolibrary.org/obo/MONDO_0004979
GCST001309
Genome-wide genotyping array
null
false
NA
false
2011-01-10
21,149,285
Ozeki T
2010-12-10
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/21149285
Genome-wide association study identifies HLA-A*3101 allele as a genetic risk factor for carbamazepine-induced cutaneous adverse drug reactions in Japanese population.
Adverse response to carbamazepine
53 Japanese ancestry cases, 881 Japanese ancestry controls
23 Japanese ancestry cases, 44 Japanese ancestry controls
Illumina [444823]
1
response to anticonvulsant
http://purl.obolibrary.org/obo/GO_0036277
GCST000912
Genome-wide genotyping array
null
false
NA
false
2012-09-20
22,797,724
Shiraishi K
2012-07-15
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/22797724
A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.
Lung adenocarcinoma
1,695 Japanese ancestry cases, 5,333 Japanese ancestry controls
4,334 Japanese ancestry cases, 8,202 Japanese ancestry controls
Illumina [538166]
4
lung adenocarcinoma
http://www.ebi.ac.uk/efo/EFO_0000571
GCST001609
Genome-wide genotyping array
null
false
NA
false
2011-07-27
21,738,479
Reiner AP
2011-06-30
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21738479
Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).
White blood cell count
16,388 African American individuals
3,551 Hispanic individuals, 14,767 Japanese ancestry individuals, 19,509 European ancestry individuals
Affymetrix, Illumina [2489215] (imputed)
2
leukocyte quantity
http://purl.obolibrary.org/obo/OBA_VT0000217
GCST001133
Genome-wide genotyping array
null
false
NA
false
2011-06-01
21,572,414
Suhre K
2011-05-15
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/21572414
A genome-wide association study of metabolic traits in human urine.
Urinary metabolites
862 European ancestry male individuals
1,862 European ancestry individuals
Affymetrix [645249]
5
metabolite measurement
http://www.ebi.ac.uk/efo/EFO_0004725
GCST001073
Genome-wide genotyping array
null
false
NA
false
2011-09-08
21,799,462
Srinivasan Y
2011-07-27
Pharmacogenet Genomics
www.ncbi.nlm.nih.gov/pubmed/21799462
Genome-wide association study of epirubicin-induced leukopenia in Japanese patients.
Epirubicin-induced leukopenia
67 Japanese ancestry cases, 203 Japanese ancestry controls
48 Japanese ancestry cases
Illumina [478359]
2
Decreased total leukocyte count
http://purl.obolibrary.org/obo/HP_0001882
GCST001175
Genome-wide genotyping array
null
false
NA
false
2013-02-27
23,237,013
Power RA
2012-12-14
Psychol Med
www.ncbi.nlm.nih.gov/pubmed/23237013
Estimating the heritability of reporting stressful life events captured by common genetic variants.
Reporting of stressful life event
2,578 European ancestry depression cases and controls
864 European ancestry depression cases, 257 European ancestry controls
Illumina [541628]
0
self rated health, stressful life event measurement
http://www.ebi.ac.uk/efo/EFO_0004778, http://www.ebi.ac.uk/efo/EFO_0007781
GCST001774
Genome-wide genotyping array
null
false
NA
false
2012-04-27
22,446,963
Okada Y
2012-03-25
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/22446963
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.
Rheumatoid arthritis
4,074 Japanese ancestry cases, 16,891 Japanese ancestry controls
5,277 Japanese ancestry cases, 21,684 Japanese ancestry controls
Affymetrix, Illumina [1948139]
15
rheumatoid arthritis
http://www.ebi.ac.uk/efo/EFO_0000685
GCST001454
Genome-wide genotyping array
null
false
NA
false
2012-09-20
22,788,528
Kong M
2012-07-13
Int J Immunogenet
www.ncbi.nlm.nih.gov/pubmed/22788528
Genetic associations with C-reactive protein level and white blood cell count in the KARE study.
C-reactive protein and white blood cell count
8,722 individuals
NA
Affymetrix [1701735] (imputed)
9
leukocyte quantity, C-reactive protein measurement
http://purl.obolibrary.org/obo/OBA_VT0000217, http://www.ebi.ac.uk/efo/EFO_0004458
GCST001605
Genome-wide genotyping array
null
false
NA
false
2015-05-06
22,791,750
Chen G
2012-07-12
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/22791750
Genome-wide association study identifies novel loci association with fasting insulin and insulin resistance in African Americans.
Insulin-related traits
927 African American non-diabetic individuals
570 West African ancestry non-diabetic individuals
Affymetrix [5396838] (imputed)
6
insulin measurement
http://www.ebi.ac.uk/efo/EFO_0004467
GCST001604
Genome-wide genotyping array
null
false
NA
false
2013-05-09
23,371,916
Dai X
2013-01-31
Genet Epidemiol
www.ncbi.nlm.nih.gov/pubmed/23371916
A genome-wide association study for serum bilirubin levels and gene-environment interaction in a Chinese population.
Bilirubin levels
1,452 Han Chinese ancestry individuals
8,830 Han Chinese ancestry individuals
Affymetrix [658288] (imputed)
10
bilirubin measurement
http://www.ebi.ac.uk/efo/EFO_0004570
GCST001846
Genome-wide genotyping array
null
false
NA
false
2011-08-18
21,799,836
Cui B
2011-07-22
PLoS One
www.ncbi.nlm.nih.gov/pubmed/21799836
A genome-wide association study confirms previously reported loci for type 2 diabetes in Han Chinese.
Type 2 diabetes
793 Han Chinese ancestry cases, 806 Han Chinese ancestry controls
4,445 Han Chinese ancestry cases, 4,458 Han Chinese ancestry controls
Illumina [474515]
2
type 2 diabetes mellitus
http://purl.obolibrary.org/obo/MONDO_0005148
GCST001173
Genome-wide genotyping array
null
false
NA
false
2013-06-06
23,420,232
Duggal P
2013-02-19
Ann Intern Med
www.ncbi.nlm.nih.gov/pubmed/23420232
Genome-wide association study of spontaneous resolution of hepatitis C virus infection: data from multiple cohorts.
Chronic hepatitis C infection
1,482 chronic HCV cases, 919 spontaneously cleared HCV cases
461 chronic HCV cases, 284 spontaneously cleared HCV cases
Illumina [792721] (imputed)
2
chronic hepatitis C virus infection
http://www.ebi.ac.uk/efo/EFO_0004220
GCST001867
Genome-wide genotyping array
null
false
NA
false
2015-05-20
21,801,394
Genin E
2011-07-29
Orphanet J Rare Dis
www.ncbi.nlm.nih.gov/pubmed/21801394
Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.
Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)
424 European ancestry cases, 1,881 European ancestry controls
NA
Illumina [268914]
6
Stevens-Johnson syndrome, toxic epidermal necrolysis
http://www.ebi.ac.uk/efo/EFO_0004276, http://www.ebi.ac.uk/efo/EFO_0004775
GCST001181
Genome-wide genotyping array
null
false
NA
false
2012-09-12
22,792,082
Himes BE
2012-07-05
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/22792082
Genome-wide association analysis in asthma subjects identifies SPATS2L as a novel bronchodilator response gene.
Asthma (bronchodilator response)
1,644 European ancestry cases
1,051 European ancestry cases
Affymetrix, Illumina [4571615] (imputed)
1
response to bronchodilator
http://purl.obolibrary.org/obo/GO_0097366
GCST001597
Genome-wide genotyping array
null
false
NA
false
2013-05-02
23,374,588
Martinelli-Boneschi F
2013-01-29
Neurobiol Aging
www.ncbi.nlm.nih.gov/pubmed/23374588
Pharmacogenomics in Alzheimer's disease: a genome-wide association study of response to cholinesterase inhibitors.
Response to cholinesterase inhibitors in Alzheimer's disease
92 European ancestry cases, 77 European ancestry controls
94 European ancestry cases, 74 European ancestry controls
Illumina [522109]
3
response to cholinesterase inhibitor
http://www.ebi.ac.uk/efo/EFO_0005195
GCST001835
Genome-wide genotyping array
null
false
NA
false
2013-05-09
23,378,610
Xie W
2013-02-01
Diabetes
www.ncbi.nlm.nih.gov/pubmed/23378610
Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes.
Metabolite levels
1,004 European ancestry individuals
339 European ancestry individuals
Affymetrix [909508] (imputed)
6
metabolite measurement
http://www.ebi.ac.uk/efo/EFO_0004725
GCST001852
Genome-wide genotyping array
null
false
NA
false
2013-05-14
23,393,555
Jensen RA
2013-02-05
PLoS One
www.ncbi.nlm.nih.gov/pubmed/23393555
Genome-wide association study of retinopathy in individuals without diabetes.
Retinopathy in non-diabetics
19,411 European ancestry individuals
NA
Illumina [2675979] (imputed)
11
retinopathy
http://www.ebi.ac.uk/efo/EFO_0003839
GCST001854
Genome-wide genotyping array
null
false
NA
false
2013-05-14
23,408,906
Porcu E
2013-02-07
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/23408906
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
Thyroid hormone levels
up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males
NA
Affymetrix, Illumina [~ 2500000] (imputed)
60
hormone measurement
http://www.ebi.ac.uk/efo/EFO_0004730
GCST001856
Genome-wide genotyping array
null
false
NA
false