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stringclasses
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SUMMARY STATS LOCATION
stringlengths
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GXE
bool
2 classes
2013-07-25
23,555,300
Cui J
2013-03-28
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/23555300
Genome-wide association study and gene expression analysis identifies CD84 as a predictor of response to etanercept therapy in rheumatoid arthritis.
Response to anti-TNF therapy in rheumatoid arthritis
Up to 2,706 European ancestry cases
NA
Affymetrix, Illumina [~ 2000000] (imputed)
4
response to TNF antagonist
http://www.ebi.ac.uk/efo/EFO_0004653
GCST001927
Genome-wide genotyping array
null
false
NA
false
2012-12-05
23,001,564
Mangino M
2012-09-25
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/23001564
Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.
Telomere length
9,190 European ancestry individuals
2,226 individuals
Affymetrix, Illumina [~ 2500000] (imputed)
4
chromosome, telomeric region length
http://purl.obolibrary.org/obo/OBA_0003784
GCST001697
Genome-wide genotyping array
null
false
NA
false
2012-12-06
23,007,406
Yang JJ
2012-09-24
Blood
www.ncbi.nlm.nih.gov/pubmed/23007406
Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia.
Acute lymphoblastic leukemia (childhood)
1,268 European, South Asian, East Asian, African American/Afro-Caribbean, Hispanic and other ancestry cases
1,267 European, South Asian, East Asian, African American/Afro-Caribbean, Hispanic and other ancestry cases
Affymetrix [444044]
10
acute lymphoblastic leukemia
http://www.ebi.ac.uk/efo/EFO_0000220
GCST001693
Genome-wide genotyping array
null
false
NA
false
2012-04-18
22,430,674
Lambert JC
2012-03-20
Mol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/22430674
Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease.
Alzheimer's disease
2,025 European ancestry cases, 5,328 European ancestry controls
7,913 European ancestry cases, 10,417 European ancestry controls
Illumina [287956]
1
Alzheimer disease
http://purl.obolibrary.org/obo/MONDO_0004975
GCST001449
Genome-wide genotyping array
null
false
NA
false
2012-11-22
22,699,663
Divaris K
2012-07-01
J Dent Res
www.ncbi.nlm.nih.gov/pubmed/22699663
Genome-wide association study of periodontal pathogen colonization.
Periodontal microbiota
1,020 European ancestry individuals
NA
Affymetrix [~ 2500000] (imputed)
16
periodontitis
http://www.ebi.ac.uk/efo/EFO_0000649
GCST001588
Genome-wide genotyping array
null
false
NA
false
2012-11-06
22,951,594
Elgazzar S
2012-09-06
J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/22951594
A genome-wide association study identifies a genetic variant in the SIAH2 locus associated with hormonal receptor-positive breast cancer in Japanese.
Breast cancer
1,086 Japanese ancestry cases, 1,816 Japanese ancestry controls
1,653 Japanese ancestry cases, 2,797 Japanese ancestry controls
Illumina [453627]
2
breast carcinoma
http://www.ebi.ac.uk/efo/EFO_0000305
GCST001667
Genome-wide genotyping array
null
false
NA
false
2011-10-01
21,775,533
Tan XL
2011-07-20
Clin Cancer Res
www.ncbi.nlm.nih.gov/pubmed/21775533
Genetic variation predicting cisplatin cytotoxicity associated with overall survival in lung cancer patients receiving platinum-based chemotherapy.
Response to platinum-based chemotherapy in small cell and non-small cell lung cancers
91 African American lymphoblastoid cell lines, 96 European ancestry lymphoblastoid cell lines, 96 Han Chinese ancestry lymphoblastoid cell lines
222 European ancestry small cell lung cancer cases, 961 European ancestry non-small cell lung cancer cases
Affymetrix, Illumina [1348798]
0
trait in response to platinum
http://purl.obolibrary.org/obo/OBA_2040037
GCST001169
Genome-wide genotyping array
null
false
NA
false
2011-06-03
21,602,798
Haiman CA
2011-05-22
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/21602798
Genome-wide association study of prostate cancer in men of African ancestry identifies a susceptibility locus at 17q21.
Prostate cancer
3,425 African American cases, 3,290 African American controls
1,500 African American/Afro-Caribbean cases, 1,908 African American/Afro-Caribbean controls, 344 Sub-Saharan African ancestry cases, 1,361 Sub-Saharan African ancestry controls
Illumina [10471986]
1
prostate carcinoma
http://www.ebi.ac.uk/efo/EFO_0001663
GCST001078
Genome-wide genotyping array
null
false
NA
false
2013-01-08
23,041,938
Lee YJ
2012-10-06
Ann Rheum Dis
www.ncbi.nlm.nih.gov/pubmed/23041938
Genome-wide association study identifies GIMAP as a novel susceptibility locus for Behcet's disease.
Behcet's disease
367 Korean ancestry cases, 800 Korean ancestry controls
363 Japanese ancestry cases, 272 Japanese ancestry controls
Affymetrix [594591]
0
Behcet's syndrome
http://www.ebi.ac.uk/efo/EFO_0003780
GCST001707
Genome-wide genotyping array
null
false
NA
false
2011-05-26
21,490,707
Cornelis MC
2011-04-07
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21490707
Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption.
Caffeine consumption
47,431 European ancestry individuals
NA
Affymetrix, Illumina [~ 2500000] (imputed)
10
coffee consumption
http://www.ebi.ac.uk/efo/EFO_0004330
GCST001032
Genome-wide genotyping array
null
false
NA
false
2013-03-06
23,247,145
Makela KM
2012-12-17
Circ Cardiovasc Genet
www.ncbi.nlm.nih.gov/pubmed/23247145
Genome-wide association study pinpoints a new functional apolipoprotein B variant influencing oxidized low-density lipoprotein levels but not cardiovascular events: AtheroRemo Consortium.
LDL (oxidized)
2,080 European ancestry individuals
4,238 European ancestry individuals
Illumina [2543887] (imputed)
1
low density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004611
GCST001777
Genome-wide genotyping array
null
false
NA
false
2012-06-22
22,558,097
Milton JN
2012-04-27
PLoS One
www.ncbi.nlm.nih.gov/pubmed/22558097
A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia.
Cholelithiasis-related traits in sickle cell anemia
905 African American cases
2,152 African American cases
Illumina [569615]
1
cholelithiasis, bilirubin measurement
http://www.ebi.ac.uk/efo/EFO_0004799, http://www.ebi.ac.uk/efo/EFO_0004570
GCST001497
Genome-wide genotyping array
null
false
NA
false
2012-04-06
22,432,041
Johnson MP
2012-03-14
PLoS One
www.ncbi.nlm.nih.gov/pubmed/22432041
Genome-wide association scan identifies a risk locus for preeclampsia on 2q14, near the inhibin, beta B gene.
Preeclampsia
538 European ancestry cases, 540 European ancestry controls
1,894 European ancestry cases, 3,022 European ancestry controls
Illumina [648175]
0
preeclampsia
http://www.ebi.ac.uk/efo/EFO_0000668
GCST001443
Genome-wide genotyping array
null
false
NA
false
2011-11-03
21,971,053
Takeuchi F
2011-10-05
Eur J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/21971053
Genome-wide association study of coronary artery disease in the Japanese.
Coronary heart disease
806 Japanese ancestry cases, 1,337 Japanese ancestry controls
3,593 Japanese ancestry cases, 6,335 Japanese ancestry controls
Illumina [451382]
3
coronary artery disease
http://www.ebi.ac.uk/efo/EFO_0001645
GCST001260
Genome-wide genotyping array
null
false
NA
false
2010-08-18
20,622,878
Remmers EF
2010-07-11
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/20622878
Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease.
Behcet's disease
1,215 Turkish ancestry cases, 1,278 Turkish ancestry controls
Up to 111 Turkish ancestry cases, 225 Turkish ancestry controls, 189 Middle Eastern Arab ancestry cases, 163 Middle Eastern Arab ancestry controls, 227 European ancestry cases, 203 European ancestry controls, 688 East Asian ancestry cases, 791 East Asian ancestry controls
Illumina [311459]
2
Behcet's syndrome
http://www.ebi.ac.uk/efo/EFO_0003780
GCST000726
Genome-wide genotyping array
null
false
NA
false
2012-04-03
22,428,042
Nakano M
2012-03-12
PLoS One
www.ncbi.nlm.nih.gov/pubmed/22428042
Common variants in CDKN2B-AS1 associated with optic-nerve vulnerability of glaucoma identified by genome-wide association studies in Japanese.
Glaucoma (primary open-angle)
833 Japanese ancestry cases, 686 Japanese ancestry controls
411 Japanese ancestry cases, 289 Japanese ancestry controls
Affymetrix [653519]
1
open-angle glaucoma
http://www.ebi.ac.uk/efo/EFO_0004190
GCST001441
Genome-wide genotyping array
null
false
NA
false
2012-10-09
22,890,011
Frazier-Wood AC
2012-08-09
Pharmacogenet Genomics
www.ncbi.nlm.nih.gov/pubmed/22890011
Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate.
Response to fenofibrate
817 European ancestry individuals
NA
Affymetrix [~ 2543887] (imputed)
10
response to fenofibrate
http://purl.obolibrary.org/obo/GO_1901557
GCST001632
Genome-wide genotyping array
null
false
NA
false
2011-11-18
22,001,757
Chambers JC
2011-10-16
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/22001757
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
Liver enzyme levels (alanine transaminase)
Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals
NA
Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)
4
serum alanine aminotransferase amount
http://purl.obolibrary.org/obo/OBA_2050062
GCST001275
Genome-wide genotyping array
null
false
NA
false
2011-11-18
22,001,757
Chambers JC
2011-10-16
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/22001757
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
Liver enzyme levels (alkaline phosphatase)
Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals
NA
Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)
14
alkaline phosphatase measurement
http://www.ebi.ac.uk/efo/EFO_0004533
GCST001276
Genome-wide genotyping array
null
false
NA
false
2011-11-18
22,001,757
Chambers JC
2011-10-16
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/22001757
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
Liver enzyme levels (gamma-glutamyl transferase)
Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals
NA
Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)
26
serum gamma-glutamyl transferase measurement
http://www.ebi.ac.uk/efo/EFO_0004532
GCST001277
Genome-wide genotyping array
null
false
NA
false
2013-08-10
23,548,203
Zhang M
2013-04-01
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/23548203
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
Sunburns
9,283 European ancestry individuals
4,236 European ancestry individuals
Affymetrix, Illumina [7588169] (imputed)
4
sunburn
http://www.ebi.ac.uk/efo/EFO_0003958
GCST001933
Genome-wide genotyping array
null
false
NA
false
2013-08-10
23,548,203
Zhang M
2013-04-01
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/23548203
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
Eye color
3871 European ancestry individuals
2,496 European ancestry individuals
Affymetrix, Illumina [2469762] (imputed)
8
eye color
http://www.ebi.ac.uk/efo/EFO_0003949
GCST001929
Genome-wide genotyping array
null
false
NA
false
2013-08-10
23,548,203
Zhang M
2013-04-01
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/23548203
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
Hair color
7,070 European ancestry individuals
4,155 European ancestry individuals
Affymetrix, Illumina [7588169] (imputed)
6
hair color
http://www.ebi.ac.uk/efo/EFO_0003924
GCST001932
Genome-wide genotyping array
null
false
NA
false
2013-08-10
23,548,203
Zhang M
2013-04-01
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/23548203
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
Non-melanoma skin cancer
6,747 European ancestry individuals
2,078 European ancestry individuals
Affymetrix, Illumina [7588169] (imputed)
4
Abnormality of skin pigmentation
http://purl.obolibrary.org/obo/HP_0001000
GCST001940
Genome-wide genotyping array
null
false
NA
false
2013-08-10
23,548,203
Zhang M
2013-04-01
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/23548203
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
Tanning
9,678 European ancestry individuals
null
Affymetrix, Illumina [7588169] (imputed)
5
suntan
http://www.ebi.ac.uk/efo/EFO_0004279
GCST001939
Genome-wide genotyping array
null
false
NA
false
2011-08-17
21,747,397
Rietschel M
2011-07-12
Mol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/21747397
Association between genetic variation in a region on chromosome 11 and schizophrenia in large samples from Europe.
Schizophrenia
1,169 European ancestry cases, 3,714 European ancestry controls
7,303 European ancestry cases, 26,274 European ancestry controls
Illumina [475427]
0
schizophrenia
http://purl.obolibrary.org/obo/MONDO_0005090
GCST001152
Genome-wide genotyping array
null
false
NA
false
2011-07-13
21,700,265
Kullo IJ
2011-06-22
Am J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/21700265
Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate.
Erythrocyte sedimentation rate
1,979 European ancestry individuals
5,628 European ancestry individuals
Illumina [476395]
5
blood sedimentation trait
http://purl.obolibrary.org/obo/OBA_2045235
GCST001120
Genome-wide genotyping array
null
false
NA
false
2011-07-21
21,738,478
Okada Y
2011-06-30
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21738478
Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.
White blood cell types
8,794 Japanese ancestry individuals
5,998 Japanese ancestry individuals
Illumina [2178645] (imputed)
20
leukocyte quantity
http://purl.obolibrary.org/obo/OBA_VT0000217
GCST001134
Genome-wide genotyping array
null
false
NA
false
2013-09-10
23,620,142
Reiner AP
2013-04-24
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/23620142
Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
Circulating myeloperoxidase levels (serum)
9,305 European ancestry individuals
null
Affymetrix, Illumina [2397181]
5
myeloperoxidase measurement
http://www.ebi.ac.uk/efo/EFO_0005243
GCST001979
Genome-wide genotyping array
null
false
NA
false
2013-09-10
23,620,142
Reiner AP
2013-04-24
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/23620142
Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
Circulating myeloperoxidase levels (plasma)
9,260 European ancestry individuals
null
Affymetrix, Illumina [2421770]
3
myeloperoxidase measurement
http://www.ebi.ac.uk/efo/EFO_0005243
GCST001980
Genome-wide genotyping array
null
false
NA
false
2011-07-27
21,738,484
Smith EN
2011-06-30
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21738484
Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes.
Bipolar disorder
1,190 European and unknown ancestry cases, 401 European and unknown ancestry controls
16,179 individuals
Affymetrix [703019]
6
bipolar disorder
http://purl.obolibrary.org/obo/MONDO_0004985
GCST001135
Genome-wide genotyping array
null
false
NA
false
2011-07-20
21,738,487
Do CB
2011-06-23
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21738487
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
Parkinson's disease
3,426 European ancestry cases, 29,624 European ancestry controls
NA
Illumina [522782]
11
Parkinson disease
http://purl.obolibrary.org/obo/MONDO_0005180
GCST001126
Genome-wide genotyping array
null
false
NA
false
2011-03-01
21,248,740
Simon-Sanchez J
2011-01-19
Eur J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/21248740
Genome-wide association study confirms extant PD risk loci among the Dutch.
Parkinson's disease
772 European ancestry cases, 2,024 European ancestry controls
NA
Illumina [514799]
0
Parkinson disease
http://purl.obolibrary.org/obo/MONDO_0005180
GCST000950
Genome-wide genotyping array
null
false
NA
false
2011-11-09
22,001,756
Khor CC
2011-10-16
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/22001756
Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1.
Dengue shock syndrome
2,008 Vietnamese ancestry child cases, 2,018 Vietnamese ancestry child controls
1,737 Vietnamese ancestry child cases, 2,934 Vietnamese ancestry child controls
Illumina [481342]
4
Dengue Hemorrhagic Fever
http://www.ebi.ac.uk/efo/EFO_0004227
GCST001278
Genome-wide genotyping array
null
false
NA
false
2011-07-20
21,740,922
Nebel A
2011-06-29
Mech Ageing Dev
www.ncbi.nlm.nih.gov/pubmed/21740922
A genome-wide association study confirms APOE as the major gene influencing survival in long-lived individuals.
Longevity
763 European ancestry individuals, 1,058 European ancestry individuals
754 European ancestry individuals, 860 European ancestry individuals
Affymetrix [664472]
1
life span determination trait
http://purl.obolibrary.org/obo/OBA_VT0005372
GCST001131
Genome-wide genotyping array
null
false
NA
false
2011-12-15
22,037,555
Shi Y
2011-10-30
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/22037555
Common variants on 8p12 and 1q24.2 confer risk of schizophrenia.
Schizophrenia
3,750 Han Chinese ancestry cases, 6,468 Han Chinese ancestry controls
4,383 Han Chinese ancestry cases, 4,539 Han Chinese ancestry controls
Affymetrix [546561]
2
schizophrenia
http://purl.obolibrary.org/obo/MONDO_0005090
GCST001301
Genome-wide genotyping array
null
false
NA
false
2011-11-15
22,006,218
Yoon D
2011-10-18
Hum Genet
www.ncbi.nlm.nih.gov/pubmed/22006218
Large-scale genome-wide association study of Asian population reveals genetic factors in FRMD4A and other loci influencing smoking initiation and nicotine dependence.
Smoking behavior
8,842 Korean ancestry individuals
1,366 African American individuals, 671 European ancestry individuals
Affymetrix [352228]
6
smoking behavior
http://www.ebi.ac.uk/efo/EFO_0004318
GCST001286
Genome-wide genotyping array
null
false
NA
false
2012-05-10
22,479,202
Dastani Z
2012-03-29
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/22479202
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
Adiponectin levels
29,347 European ancestry individuals, 4,232 African American individuals, 1,776 Filipino ancestry individuals
NA
Affymetrix, Illumina [NR] (imputed)
10
adiponectin measurement
http://www.ebi.ac.uk/efo/EFO_0004502
GCST001463
Genome-wide genotyping array
null
false
NA
false
2012-05-10
22,479,202
Dastani Z
2012-03-29
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/22479202
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
Adiponectin levels
29,347 European ancestry individuals
10,536 European ancestry individuals
Affymetrix, Illumina [NR] (imputed)
21
adiponectin measurement
http://www.ebi.ac.uk/efo/EFO_0004502
GCST001465
Genome-wide genotyping array
null
true
http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/GCST001001-GCST002000/GCST001465
false
2012-07-27
22,675,492
Prescott J
2012-06-04
PLoS One
www.ncbi.nlm.nih.gov/pubmed/22675492
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
Sex hormone-binding globulin levels
1,598 European ancestry female individuals
NA
Illumina [~ 2500000] (imputed)
8
sex hormone-binding globulin measurement
http://www.ebi.ac.uk/efo/EFO_0004696
GCST001554
Genome-wide genotyping array
null
false
NA
false
2012-07-27
22,675,492
Prescott J
2012-06-04
PLoS One
www.ncbi.nlm.nih.gov/pubmed/22675492
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
Estradiol levels
1,583 European ancestry female individuals
NA
Illumina [~ 2500000] (imputed)
8
estradiol measurement
http://www.ebi.ac.uk/efo/EFO_0004697
GCST001553
Genome-wide genotyping array
null
false
NA
false
2012-07-27
22,675,492
Prescott J
2012-06-04
PLoS One
www.ncbi.nlm.nih.gov/pubmed/22675492
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
Testosterone levels
1,589 European ancestry female individuals
NA
Illumina [~ 2500000] (imputed)
5
testosterone measurement
http://www.ebi.ac.uk/efo/EFO_0004908
GCST001555
Genome-wide genotyping array
null
false
NA
false
2013-08-29
23,646,285
Khor SS
2013-04-16
PeerJ
www.ncbi.nlm.nih.gov/pubmed/23646285
Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia.
Hypersomnia (HLA-DQB1*06:02 negative)
125 Japanese ancestry cases, 562 Japanese ancestry controls
null
Affymetrix [508366] (imputed)
5
hypersomnia
http://www.ebi.ac.uk/efo/EFO_0005246
GCST001971
Genome-wide genotyping array
null
false
NA
false
2011-11-04
21,977,987
Trompet S
2011-10-06
BMC Med Genet
www.ncbi.nlm.nih.gov/pubmed/21977987
Replication of LDL GWAs hits in PROSPER/PHASE as validation for future (pharmaco)genetic analyses.
LDL cholesterol
5,244 European ancestry individuals
10,754 individuals
Illumina [2500000] (imputed)
0
low density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004611
GCST001262
Genome-wide genotyping array
null
false
NA
false
2011-10-29
21,961,650
Squassina A
2011-10-03
Pharmacogenomics
www.ncbi.nlm.nih.gov/pubmed/21961650
Evidence for association of an ACCN1 gene variant with response to lithium treatment in Sardinian patients with bipolar disorder.
Response to lithium treatment in bipolar disorder
26 European ancestry lithium treatment responders, 26 European ancestry lithium treatment non-responders
34 European ancestry lithium treatment responders, 118 European ancestry lithium treatment non-responders
Affymetrix [645148]
0
response to lithium ion
http://purl.obolibrary.org/obo/GO_0010226
GCST001259
Genome-wide genotyping array
null
false
NA
false
2012-07-19
22,544,366
Ellinor PT
2012-04-29
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/22544366
Meta-analysis identifies six new susceptibility loci for atrial fibrillation.
Atrial fibrillation
6,707 European ancestry cases, 52,426 European ancestry controls
5,381 European ancestry casses, 10,030 European ancestry controls
Affymetrix, Illumina [~ 2500000] (imputed)
10
atrial fibrillation
http://www.ebi.ac.uk/efo/EFO_0000275
GCST001499
Genome-wide genotyping array
null
false
NA
false
2013-06-26
23,518,928
Liu M
2013-03-21
Mol Endocrinol
www.ncbi.nlm.nih.gov/pubmed/23518928
TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.
Estradiol plasma levels (breast cancer)
700 European ancestry cases, 50 African ancestry cases, 17 Asian ancestry cases, 5 American Indian ancestry cases
NA
Illumina [563945]
18
estradiol measurement
http://www.ebi.ac.uk/efo/EFO_0004697
GCST001914
Genome-wide genotyping array
null
false
NA
false
2013-06-18
23,471,985
Jahanshad N
2013-03-05
Proc Natl Acad Sci U S A
www.ncbi.nlm.nih.gov/pubmed/23471985
Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity.
Brain connectivity
331 European ancestry individuals
null
Illumina [428287]
12
brain connectivity attribute
http://purl.obolibrary.org/obo/OBA_2045295
GCST001889
Genome-wide genotyping array
null
false
NA
false
2012-08-15
22,672,568
Heit JA
2012-06-05
J Thromb Haemost
www.ncbi.nlm.nih.gov/pubmed/22672568
A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q.
Venous thromboembolism
1,503 European and other ancestry cases, 1,459 European and other ancestry controls
1,407 cases, 1,418 controls
Illumina [~ 2500000] (imputed)
5
venous thromboembolism
http://www.ebi.ac.uk/efo/EFO_0004286
GCST001557
Genome-wide genotyping array
null
false
NA
false
2012-06-27
22,570,697
Matesanz F
2012-05-03
PLoS One
www.ncbi.nlm.nih.gov/pubmed/22570697
Genome-wide association study of multiple sclerosis confirms a novel locus at 5p13.1.
Multiple sclerosis
2,127 European ancestry cases, 4,558 European ancestry controls
2,785 European ancestry cases, 2,940 European ancestry controls
Affymetrix, Illumina [130903]
1
multiple sclerosis
http://purl.obolibrary.org/obo/MONDO_0005301
GCST001505
Genome-wide genotyping array
null
false
NA
false
2012-06-27
22,551,897
Mahasirimongkol S
2012-05-03
J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/22551897
Genome-wide association studies of tuberculosis in Asians identify distinct at-risk locus for young tuberculosis.
Tuberculosis
433 Thai ancestry cases, 295 Thai ancestry controls, 188 Japanese ancestry cases, 934 Japanese ancestry controls
369 Thai ancestry cases, 439 Thai ancestry controls, 112 Japanese ancestry cases, 1,089 Japanese ancestry controls
Illumina [533252]
0
tuberculosis
http://purl.obolibrary.org/obo/MONDO_0018076
GCST001504
Genome-wide genotyping array
null
false
NA
false
2013-03-11
23,242,368
Jiang DK
2012-12-16
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/23242368
Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma.
Hepatocellular carcinoma in hepatitis B infection
1,161 Chinese ancestry cases, 1,353 Chinese ancestry controls
4,319 Chinese ancestry cases, 4,966 Chinese ancestry controls
Illumina [1672517] (imputed)
2
hepatocellular carcinoma
http://www.ebi.ac.uk/efo/EFO_0000182
GCST001775
Genome-wide genotyping array
null
false
NA
false
2013-06-14
23,459,443
Avery CL
2013-03-05
Pharmacogenomics J
www.ncbi.nlm.nih.gov/pubmed/23459443
Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.
QT interval (drug interaction)
33,781 European ancestry individuals
NA
Affymetrix, Illumina [~ 2500000] (imputed)
17
QT interval
http://www.ebi.ac.uk/efo/EFO_0004682
GCST001890
Genome-wide genotyping array
null
false
NA
true
2013-06-11
23,459,936
Divaris K
2013-03-04
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/23459936
Exploring the genetic basis of chronic periodontitis: a genome-wide association study.
Periodontitis
4,504 European ancestry individuals
656 European ancestry and African American individuals
Affymetrix [2135236] (imputed)
3
periodontitis
http://www.ebi.ac.uk/efo/EFO_0000649
GCST001888
Genome-wide genotyping array
null
false
NA
false
2012-07-25
22,665,904
Willis JA
2012-06-04
Clin Cancer Res
www.ncbi.nlm.nih.gov/pubmed/22665904
A replication study and genome-wide scan of single-nucleotide polymorphisms associated with pancreatic cancer risk and overall survival.
Pancreatic cancer
252 European ancestry cases
798 European ancestry cases, 21 African American cases, 10 East Asian ancestry cases, 4 Asian Indian ancestry cases
Illumina [301250]
0
pancreatic carcinoma
http://www.ebi.ac.uk/efo/EFO_0002618
GCST001556
Genome-wide genotyping array
null
false
NA
false
2012-07-19
22,648,509
Wang KS
2012-05-31
J Mol Neurosci
www.ncbi.nlm.nih.gov/pubmed/22648509
PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies.
Formal thought disorder in schizophrenia
835 European ancestry cases, 2,694 European ancestry controls
NA
Affymetrix [729454]
5
formal thought disorder
http://www.ebi.ac.uk/efo/EFO_0004805
GCST001549
Genome-wide genotyping array
null
false
NA
false
2012-12-21
23,042,114
Hirota T
2012-10-07
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/23042114
Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
Atopic dermatitis
1,472 Japanese ancestry cases, 7,971 Japanese ancestry controls
1,856 Japanese ancestry cases, 7,021 Japanese ancestry controls
Illumina [606164]
17
atopic eczema
http://www.ebi.ac.uk/efo/EFO_0000274
GCST001709
Genome-wide genotyping array
null
false
NA
false
2012-04-03
22,420,046
Stergiakouli E
2012-02-01
Am J Psychiatry
www.ncbi.nlm.nih.gov/pubmed/22420046
Investigating the contribution of common genetic variants to the risk and pathogenesis of ADHD.
Attention deficit hyperactivity disorder
727 European ancestry children, 5,081 European ancestry individuals
1,142 European ancestry individuals, 896 cases and 2,455 controls from 2,064 trios
Illumina [502702]
0
attention deficit hyperactivity disorder
http://www.ebi.ac.uk/efo/EFO_0003888
GCST001395
Genome-wide genotyping array
null
false
NA
false
2012-04-03
22,423,221
Qayyum R
2012-03-08
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/22423221
A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.
Mean platelet volume
16,388 African American individuals
NA
Affymetrix, Illumina [~ 2200000] (imputed)
3
platelet volume
http://purl.obolibrary.org/obo/OBA_0003277
GCST001439
Genome-wide genotyping array
null
false
NA
false
2019-07-02
22,423,221
Qayyum R
2012-03-08
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/22423221
A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.
Platelet count
16,388 African American individuals
NA
Affymetrix, Illumina [~ 2200000] (imputed)
10
platelet count
http://www.ebi.ac.uk/efo/EFO_0004309
GCST008047
Genome-wide genotyping array
null
false
NA
false
2012-04-17
22,426,144
Long J
2012-03-16
Cancer Epidemiol Biomarkers Prev
www.ncbi.nlm.nih.gov/pubmed/22426144
Genome-wide association study identifies a possible susceptibility locus for endometrial cancer.
Endometrial cancer
832 Chinese ancestry cases, 2,682 Chinese ancestry controls
6,864 European ancestry cases, 12,936 European ancestry controls, 796 Chinese ancestry cases, 978 Chinese ancestry controls
Affymetrix [585963]
0
endometrial neoplasm
http://www.ebi.ac.uk/efo/EFO_0004230
GCST001447
Genome-wide genotyping array
null
false
NA
false
2012-12-21
23,043,469
Menzel S
2012-10-09
Br J Haematol
www.ncbi.nlm.nih.gov/pubmed/23043469
HbA2 levels in normal adults are influenced by two distinct genetic mechanisms.
HbA2 levels
2,322 European ancestry individuals
1,716 European ancestry individuals
Illumina [531038]
2
hemoglobin A2 measurement
http://www.ebi.ac.uk/efo/EFO_0005845
GCST001710
Genome-wide genotyping array
null
false
NA
false
2013-09-27
23,527,680
Ebejer JL
2013-04-01
Twin Res Hum Genet
www.ncbi.nlm.nih.gov/pubmed/23527680
Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.
Attention deficit hyperactivity disorder (combined symptoms)
1,851 individuals
155 individuals
Illumina [2373249] (imputed)
21
attention deficit hyperactivity disorder
http://www.ebi.ac.uk/efo/EFO_0003888
GCST001931
Genome-wide genotyping array
null
false
NA
false
2013-10-01
23,527,680
Ebejer JL
2013-04-01
Twin Res Hum Genet
www.ncbi.nlm.nih.gov/pubmed/23527680
Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.
Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)
1,851 individuals
155 individuals
Illumina [2373249] (imputed)
25
attention deficit hyperactivity disorder
http://www.ebi.ac.uk/efo/EFO_0003888
GCST001944
Genome-wide genotyping array
null
false
NA
false
2013-09-27
23,527,680
Ebejer JL
2013-04-01
Twin Res Hum Genet
www.ncbi.nlm.nih.gov/pubmed/23527680
Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits.
Attention deficit hyperactivity disorder (inattention symptoms)
1,851 individuals
155 individuals
Illumina [2373249] (imputed)
22
attention deficit hyperactivity disorder
http://www.ebi.ac.uk/efo/EFO_0003888
GCST001943
Genome-wide genotyping array
null
false
NA
false
2013-06-11
23,455,637
Iles MM
2013-03-03
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/23455637
A variant in FTO shows association with melanoma risk not due to BMI.
Melanoma
1,353 European ancestry cases, 3,566 European ancestry controls
12,313 European ancestry cases, Up to 55,667 European ancestry controls
Illumina [2600000] (imputed)
1
melanoma
http://www.ebi.ac.uk/efo/EFO_0000756
GCST001886
Genome-wide genotyping array
null
false
NA
false
2012-12-07
23,028,483
Ramasamy A
2012-09-28
PLoS One
www.ncbi.nlm.nih.gov/pubmed/23028483
Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.
Asthma
1,716 European ancestry cases, 16,888 European ancestry controls
4,035 European ancestry cases, 11,251 European ancestry controls
Affymetrix, Illumina [~ 2200000] (imputed)
2
asthma
http://purl.obolibrary.org/obo/MONDO_0004979
GCST001701
Genome-wide genotyping array
null
false
NA
false
2013-05-26
23,455,491
Zuo L
2013-02-27
Drug Alcohol Depend
www.ncbi.nlm.nih.gov/pubmed/23455491
NKAIN1-SERINC2 is a functional, replicable and genome-wide significant risk gene region specific for alcohol dependence in subjects of European descent.
Alcohol dependence
1,409 European ancestry cases, 1,518 European ancestry controls
6,438 European ancestry individuals from 1,645 affected families
Illumina [805814]
1
alcohol dependence
http://purl.obolibrary.org/obo/MONDO_0007079
GCST001874
Genome-wide genotyping array
null
false
NA
false
2013-08-06
23,509,962
Greliche N
2013-03-20
BMC Med Genet
www.ncbi.nlm.nih.gov/pubmed/23509962
A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
Venous thromboembolism (SNP x SNP interaction)
411 European ancestry cases, 1,228 European ancestry controls
1,542 European ancestry cases, 1,110 European ancestry controls
Illumina [291872]
37
venous thromboembolism
http://www.ebi.ac.uk/efo/EFO_0004286
GCST001913
Genome-wide genotyping array
null
false
NA
false
2013-03-27
23,291,587
Kirino Y
2013-01-06
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/23291587
Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1.
Behcet's disease
435 Turkish uveitis cases, 780 Turkish without uveitis cases, 1,278 Turkish controls
355 Turkish uveitis cases, 483 Turkish without uveitis cases, 601 Turkish controls, up to 612 Japanese ancestry cases, up to 740 Japanese ancestry controls
Illumina [779465] (imputed)
6
Behcet's syndrome
http://www.ebi.ac.uk/efo/EFO_0003780
GCST001804
Genome-wide genotyping array
null
false
NA
false
2012-11-28
23,028,356
Myouzen K
2012-09-13
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/23028356
Functional variants in NFKBIE and RTKN2 involved in activation of the NF-κB pathway are associated with rheumatoid arthritis in Japanese.
Rheumatoid arthritis
2,303 Japanese ancestry cases, 3,380 Japanese ancestry controls
5,604 Japanese ancestry cases, 31,982 Japanese ancestry controls
Illumina [NR]
2
rheumatoid arthritis
http://www.ebi.ac.uk/efo/EFO_0000685
GCST001681
Genome-wide genotyping array
null
false
NA
false
2013-01-11
23,118,916
Yang M
2012-10-31
PLoS One
www.ncbi.nlm.nih.gov/pubmed/23118916
Genome-wide scan identifies variant in TNFSF13 associated with serum IgM in a healthy Chinese male population.
IgM levels
1,999 Han Chinese ancestry individuals
1,496 East Asian ancestry individuals
Illumina [1940243] (imputed)
3
serum IgM amount
http://purl.obolibrary.org/obo/OBA_2050070
GCST001724
Genome-wide genotyping array
null
false
NA
false
2013-02-19
23,266,556
Peters U
2012-12-21
Gastroenterology
www.ncbi.nlm.nih.gov/pubmed/23266556
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
Colorectal cancer
12,696 European ancestry colorectal tumor cases, 15,113 European ancestry controls
958 European ancestry colorectal tumor cases, 909 European ancestry controls, up to 2,098 East Asian ancestry colorectal tumor cases, up to 5,749 East Asian ancestry controls
Affymetrix, Illumina [2708280] (imputed)
15
colorectal cancer
http://purl.obolibrary.org/obo/MONDO_0005575
GCST001787
Genome-wide genotyping array
null
false
NA
false
2012-11-05
22,952,603
Hart AB
2012-08-28
PLoS One
www.ncbi.nlm.nih.gov/pubmed/22952603
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
Response to amphetamines
1 American Indian ancestry individual, 18 African American individuals, 10 Asian ancestry individuals, 325 European ancestry individuals, 17 Hispanic individuals, 10 individuals
NA
Affymetrix [5476100] (imputed)
89
response to xenobiotic stimulus
http://purl.obolibrary.org/obo/GO_0009410
GCST001651
Genome-wide genotyping array
null
false
NA
false
2013-08-28
23,592,221
Rahmani M
2013-04-16
Hum Reprod
www.ncbi.nlm.nih.gov/pubmed/23592221
Shared genetic factors for age at natural menopause in Iranian and European women.
Menopause (age at onset)
165 Iranian ancestry early menopause females, 187 Iranian ancestry late menopause females
573 Iranian ancestry females, 38,968 European ancestry females
Illumina [694326]
0
age at menopause
http://www.ebi.ac.uk/efo/EFO_0004704
GCST001970
Genome-wide genotyping array
null
false
NA
false
2013-01-09
23,041,239
Traylor M
2012-10-05
Lancet Neurol
www.ncbi.nlm.nih.gov/pubmed/23041239
Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.
Stroke (ischemic)
12,389 European ancestry cases, 62,004 European ancestry controls
1,322 Pakistani ancestry cases, 1,143 Pakistani ancestry controls, 12,025 European ancestry cases, 27,940 European ancestry controls
Affymetrix, Illumina [NR] (imputed)
8
stroke
http://www.ebi.ac.uk/efo/EFO_0000712
GCST001706
Genome-wide genotyping array
null
false
NA
false
2013-02-26
23,259,602
Wang X
2012-12-21
BMC Oral Health
www.ncbi.nlm.nih.gov/pubmed/23259602
Genome-wide association scan of dental caries in the permanent dentition.
Dental caries
1,483 European ancestry comparatively younger individuals, 5,960 European ancestry comparatively older individuals
NA
Affymetrix, Illumina [~ 1400000] (imputed)
34
dental caries
http://www.ebi.ac.uk/efo/EFO_0003819
GCST001786
Genome-wide genotyping array
null
false
NA
false
2013-02-23
23,255,317
Wooten EC
2012-12-19
Circ Cardiovasc Genet
www.ncbi.nlm.nih.gov/pubmed/23255317
Formin homology 2 domain containing 3 variants associated with hypertrophic cardiomyopathy.
Hypertrophic cardiomyopathy
174 European ancestry cases, 823 European ancestry controls
1,012 European ancestry cases, 1,326 European ancestry controls
Illumina [311399]
0
hypertrophic cardiomyopathy
http://www.ebi.ac.uk/efo/EFO_0000538
GCST001778
Genome-wide genotyping array
null
false
NA
false
2011-11-12
22,004,975
Li R
2011-10-17
Lupus
www.ncbi.nlm.nih.gov/pubmed/22004975
Association of CD247 with systemic lupus erythematosus in Asian populations.
Systemic lupus erythematosus
612 Chinese ancestry cases, 2,193 Chinese ancestry controls
2,866 East Asian ancestry cases, up to 4,808 East Asian ancestry controls, 473 Thai ancestry cases, up to 970 Thai ancestry controls
Illumina [NR]
0
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST001279
Genome-wide genotyping array
null
false
NA
false
2012-07-17
22,637,743
Wei S
2012-05-27
Carcinogenesis
www.ncbi.nlm.nih.gov/pubmed/22637743
Genome-wide gene-environment interaction analysis for asbestos exposure in lung cancer susceptibility.
Lung cancer (asbestos exposure interaction)
1,154 European ancestry cases, 1,137 European ancestry controls
NA
Illumina [307944]
2
lung carcinoma, asbestos exposure measurement
http://www.ebi.ac.uk/efo/EFO_0001071, http://www.ebi.ac.uk/efo/EFO_0004806
GCST001543
Genome-wide genotyping array
null
false
NA
true
2013-03-15
23,263,486
Kottgen A
2012-12-23
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/23263486
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
Urate levels
49,825 European ancestry males, 60,522 European ancestry females
Up to 32,813 European ancestry individuals
Affymetrix, Illumina, Perlegen [2450547] (imputed)
47
urate measurement
http://www.ebi.ac.uk/efo/EFO_0004531
GCST001791
Genome-wide genotyping array
null
true
http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/GCST001001-GCST002000/GCST001791
false
2013-03-15
23,263,486
Kottgen A
2012-12-23
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/23263486
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
Gout
2,115 European ancestry cases, 67,259 European ancestry controls
1,036 European ancestry cases
Affymetrix, Illumina [2538056] (imputed)
6
gout
http://www.ebi.ac.uk/efo/EFO_0004274
GCST001790
Genome-wide genotyping array
null
true
http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/GCST001001-GCST002000/GCST001790
false
2011-07-08
21,706,003
Kilpelainen TO
2011-06-26
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/21706003
Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile.
Adiposity
29,069 European ancestry individuals, 7,557 Indian Asian ancestry individuals
39,576 European ancestry individuals
Affymetrix, Illumina, Perlegen [~ 2500000] (imputed)
3
obesity
http://www.ebi.ac.uk/efo/EFO_0001073
GCST001128
Genome-wide genotyping array
null
false
NA
false
2011-08-03
21,725,308
Hu Z
2011-07-03
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/21725308
A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese.
Lung cancer
2,331 Han Chinese ancestry cases, 3,077 Han Chinese ancestry controls
6,313 Han Chinese ancestry cases, 6,409 Han Chinese ancestry controls
Affymetrix [906703]
4
lung carcinoma
http://www.ebi.ac.uk/efo/EFO_0001071
GCST001140
Genome-wide genotyping array
null
false
NA
false
2011-07-20
21,706,340
Teerlink C
2011-06-26
Hum Genet
www.ncbi.nlm.nih.gov/pubmed/21706340
A unique genome-wide association analysis in extended Utah high-risk pedigrees identifies a novel melanoma risk variant on chromosome arm 10q.
Melanoma
156 European ancestry cases from 34 high-risk families, 2,150 European ancestry controls
NA
Illumina [491227]
1
melanoma
http://www.ebi.ac.uk/efo/EFO_0000756
GCST001129
Genome-wide genotyping array
null
false
NA
false
2015-05-14
22,005,930
Hollingworth P
2011-10-18
Mol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/22005930
Genome-wide association study of Alzheimer's disease with psychotic symptoms.
Psychosis and Alzheimer's disease
1,039 European ancestry cases with psychosis, 5,659 European ancestry controls, 260 European, African American and Native American ancestry cases with psychosis from 264 families
NA
Illumina [1847262] (imputed)
11
Alzheimer disease, psychotic symptoms
http://purl.obolibrary.org/obo/MONDO_0004975, http://www.ebi.ac.uk/efo/EFO_0005940
GCST001285
Genome-wide genotyping array
null
false
NA
false
2015-05-14
22,005,930
Hollingworth P
2011-10-18
Mol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/22005930
Genome-wide association study of Alzheimer's disease with psychotic symptoms.
Psychosis in Alzheimer's disease
1,039 European ancestry cases with psychosis, 610 European ancestry cases without psychosis, 260 European, African American and Native American ancestry cases with psychosis and 125 European, African American and Native American ancestry cases without psychosis from 264 families
NA
Illumina [1882172] (imputed)
8
psychotic symptoms
http://www.ebi.ac.uk/efo/EFO_0005940
GCST001282
Genome-wide genotyping array
null
false
NA
false
2013-04-24
21,705,454
Huang RS
2011-06-24
Clin Cancer Res
www.ncbi.nlm.nih.gov/pubmed/21705454
Platinum sensitivity-related germline polymorphism discovered via a cell-based approach and analysis of its association with outcome in ovarian cancer patients.
Response to platinum-based agents
87 European ancestry lymphoblastoid cell lines
52 European ancestry lymphoblastoid cell lines
NR [2286186]
0
trait in response to platinum
http://purl.obolibrary.org/obo/OBA_2040037
GCST001127
Genome-wide genotyping array
null
false
NA
false
2012-07-13
22,628,180
Luciano M
2012-05-24
Am J Med Genet B Neuropsychiatr Genet
www.ncbi.nlm.nih.gov/pubmed/22628180
Genome-wide association uncovers shared genetic effects among personality traits and mood states.
Personality dimensions
6,268 European ancestry individuals
9,244 European ancestry individuals
Illumina [~ 2500000] (imputed)
0
personality trait
http://www.ebi.ac.uk/efo/EFO_0004365
GCST001541
Genome-wide genotyping array
null
false
NA
false
2012-05-11
22,457,343
Martinelli-Boneschi F
2012-03-28
Mult Scler
www.ncbi.nlm.nih.gov/pubmed/22457343
A genome-wide association study in progressive multiple sclerosis.
Multiple sclerosis
197 European ancestry cases, 234 European ancestry controls
379 European ancestry cases, 398 European ancestry controls
Affymetrix [277866]
1
multiple sclerosis
http://purl.obolibrary.org/obo/MONDO_0005301
GCST001459
Genome-wide genotyping array
null
false
NA
false
2012-04-18
22,446,040
Wang KS
2012-03-16
Gene
www.ncbi.nlm.nih.gov/pubmed/22446040
A novel locus for body mass index on 5p15.2: a meta-analysis of two genome-wide association studies.
Body mass index
5,218 European ancestry individuals
762 European ancestry individuals
Illumina [up to 520531]
3
body mass index
http://www.ebi.ac.uk/efo/EFO_0004340
GCST001448
Genome-wide genotyping array
null
false
NA
false
2013-09-12
23,535,733
Garcia-Closas M
2013-04-01
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/23535733
Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
Breast cancer
4,193 European ancestry cases, 35,194 European ancestry controls
6,514 European ancestry cases, 41,455 European ancestry controls
Illumina [NR]
17
breast carcinoma
http://www.ebi.ac.uk/efo/EFO_0000305
GCST001930
Genome-wide genotyping array
null
false
NA
false
2013-05-16
23,386,860
Pasquale LR
2013-01-30
Front Genet
www.ncbi.nlm.nih.gov/pubmed/23386860
Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes.
Type 2 diabetes (dietary heme iron intake interaction)
1,806 European ancestry cases, 2,965 European ancestry controls
NA
Affymetrix [681770]
4
dietary heme iron intake measurement, type 2 diabetes mellitus
http://www.ebi.ac.uk/efo/EFO_0008355, http://purl.obolibrary.org/obo/MONDO_0005148
GCST001843
Genome-wide genotyping array
null
false
NA
true
2012-03-23
22,293,537
Kiyotani K
2012-01-29
Pharmacogenet Genomics
www.ncbi.nlm.nih.gov/pubmed/22293537
A genome-wide association study identifies four genetic markers for hematological toxicities in cancer patients receiving gemcitabine therapy.
Response to gemcitabine in pancreatic cancer
21 Japanese ancestry adverse reaction cases, 58 Japanese ancestry non-adverse reaction individuals
33 Japanese ancestry adverse reaction cases, 62 Japanese ancestry non-adverse reaction individuals
Illumina [470064]
2
response to gemcitabine
http://purl.obolibrary.org/obo/GO_0036272
GCST001390
Genome-wide genotyping array
null
false
NA
false
2012-04-28
22,452,962
Kim HC
2012-03-27
Breast Cancer Res
www.ncbi.nlm.nih.gov/pubmed/22452962
A genome-wide association study identifies a breast cancer risk variant in ERBB4 at 2q34: results from the Seoul Breast Cancer Study.
Breast cancer
2,273 Korean ancestry cases, 2,052 Korean ancestry controls
4,049 Korean ancestry cases, 3,845 Korean ancestry controls
Affymetrix [555525]
1
breast carcinoma
http://www.ebi.ac.uk/efo/EFO_0000305
GCST001457
Genome-wide genotyping array
null
false
NA
false
2011-07-14
21,703,634
Wang KS
2011-06-22
J Psychiatr Res
www.ncbi.nlm.nih.gov/pubmed/21703634
A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.
Alcohol dependence
1,283 European ancestry cases, 1,416 European ancestry controls
1,650 European ancestry cases and 1,684 European ancestry controls from 778 nuclear families
Illumina [up to 818773]
2
alcohol dependence
http://purl.obolibrary.org/obo/MONDO_0007079
GCST001121
Genome-wide genotyping array
null
false
NA
false
2013-09-27
23,551,011
Zhao L
2013-04-02
Ann Hum Genet
www.ncbi.nlm.nih.gov/pubmed/23551011
Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.
Preeclampsia
21 Afro-Caribbean cases, 1,010 Afro-Caribbean controls, 50 European ancestry cases, 1,202 European ancestry controls, 62 Hispanic cases, 658 Hispanic controls
NA
Illumina [2485249] (imputed)
18
preeclampsia
http://www.ebi.ac.uk/efo/EFO_0000668
GCST001949
Genome-wide genotyping array
null
false
NA
false
2010-09-10
20,663,923
Anney R
2010-07-27
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/20663923
A genome-wide scan for common alleles affecting risk for autism.
Autism
1,230 European ancestry child cases from 1,217 families, 155 African American Asian or Latino child cases from 152 families, 1,880 controls
783 European ancestry child cases from 440 families, 303 child cases from 155 families, 1,965 European, African American and other ancestry controls
Illumina [842348]
2
autism
http://www.ebi.ac.uk/efo/EFO_0003758
GCST000740
Genome-wide genotyping array
null
false
NA
false
2012-04-20
22,451,204
Pankratz N
2012-03-01
Ann Neurol
www.ncbi.nlm.nih.gov/pubmed/22451204
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
Parkinson's disease
4,238 European ancestry cases, 4,239 European ancestry controls
3,738 European ancestry cases, 2,111 European ancestry controls
Illumina [2500000] (imputed)
17
Parkinson disease
http://purl.obolibrary.org/obo/MONDO_0005180
GCST001430
Genome-wide genotyping array
null
false
NA
false
2013-05-16
23,423,446
Hein R
2013-02-20
Breast Cancer Res Treat
www.ncbi.nlm.nih.gov/pubmed/23423446
A genome-wide association study to identify genetic susceptibility loci that modify ductal and lobular postmenopausal breast cancer risk associated with menopausal hormone therapy use: a two-stage design with replication.
Breast cancer (menopausal hormone therapy interaction)
731 European ancestry cases
7,965 European and East Asian ancestry cases, 8,128 European and East Asian ancestry controls
Illumina [316974]
0
breast carcinoma, hormone replacement therapy
http://www.ebi.ac.uk/efo/EFO_0000305, http://www.ebi.ac.uk/efo/EFO_0003961
GCST001869
Genome-wide genotyping array
null
false
NA
true