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2 classes
2009-01-12
19,060,911
Aulchenko YS
2008-12-07
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19060911
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
HDL cholesterol
20,697 European ancestry individuals, 715 Orcadian individuals
NA
Affymetrix, Illumina [up to 600000]
10
high density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004612
GCST000288
Genome-wide genotyping array
null
false
NA
false
2011-01-16
21,302,353
Perroud N
2010-12-28
Am J Med Genet B Neuropsychiatr Genet
www.ncbi.nlm.nih.gov/pubmed/21302353
Genome-wide association study of hoarding traits.
Hoarding
3,304 European ancestry individuals
NA
Illumina [1517033] (imputed)
3
obsessive-compulsive disorder
http://www.ebi.ac.uk/efo/EFO_0004242
GCST000932
Genome-wide genotyping array
null
false
NA
false
2011-01-16
21,186,350
Zhou K
2010-12-26
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/21186350
Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes.
Response to metformin in type 2 diabetes (glycemic)
1,024 European ancestry cases
2,896 European ancestry cases
Affymetrix [705125]
1
response to metformin
http://purl.obolibrary.org/obo/GO_1901558
GCST000927
Genome-wide genotyping array
null
false
NA
false
2009-01-14
19,110,211
Meisinger C
2008-12-24
Am J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/19110211
A genome-wide association study identifies three loci associated with mean platelet volume.
Mean platelet volume
1,606 European ancestry individuals
8,617 European ancestry individuals
Affymetrix [335152]
3
platelet volume
http://purl.obolibrary.org/obo/OBA_0003277
GCST000305
Genome-wide genotyping array
null
false
NA
false
2010-03-05
20,159,242
Li X
2010-02-01
J Allergy Clin Immunol
www.ncbi.nlm.nih.gov/pubmed/20159242
Genome-wide association study of asthma identifies RAD50-IL13 and HLA-DR/DQ regions.
Asthma
607 European ancestry cases, 3,294 European ancestry controls
NA
Illumina [292443]
3
asthma
http://purl.obolibrary.org/obo/MONDO_0004979
GCST000576
Genome-wide genotyping array
null
false
NA
false
2009-03-31
19,305,408
Newton-Cheh C
2009-03-22
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19305408
Common variants at ten loci influence QT interval duration in the QTGEN Study.
QT interval
13,685 European ancestry individuals
15,854 European ancestry individuals
Affymetrix, Illumina [up to 2543686] (imputed)
13
QT interval
http://www.ebi.ac.uk/efo/EFO_0004682
GCST000363
Genome-wide genotyping array
null
false
NA
false
2009-03-30
19,278,955
Tregouet DA
2009-03-10
Blood
www.ncbi.nlm.nih.gov/pubmed/19278955
Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach.
Venous thromboembolism
419 European ancestry cases, 1,228 European ancestry controls
1,757 European ancestry cases, 1,480 European ancestry controls
Illumina [291872]
1
venous thromboembolism
http://www.ebi.ac.uk/efo/EFO_0004286
GCST000354
Genome-wide genotyping array
null
false
NA
false
2009-01-21
19,124,843
Ober C
2009-01-07
J Lipid Res
www.ncbi.nlm.nih.gov/pubmed/19124843
Genome-wide association study of plasma lipoprotein(a) levels identifies multiple genes on chromosome 6q.
Lp (a) levels
357 Hutterite individuals
1,054 European ancestry males
Affymetrix [290327]
1
lipoprotein A measurement
http://www.ebi.ac.uk/efo/EFO_0006925
GCST000312
Genome-wide genotyping array
null
false
NA
false
2009-03-31
19,287,509
Cui J
2009-03-14
Mol Med
www.ncbi.nlm.nih.gov/pubmed/19287509
Genome-wide association study of determinants of anti-cyclic citrullinated peptide antibody titer in adults with rheumatoid arthritis.
Anti-cyclic Citrullinated Peptide Antibody
531 European ancestry cases
849 European ancestry cases
Affymetrix [97248]
1
blood immunoglobulin amount
http://purl.obolibrary.org/obo/OBA_VT0002460
GCST000356
Genome-wide genotyping array
null
false
NA
false
2009-05-14
19,416,921
Scott LJ
2009-05-05
Proc Natl Acad Sci U S A
www.ncbi.nlm.nih.gov/pubmed/19416921
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.
Bipolar disorder
3,683 European ancestry cases, 14,507 European ancestry controls
NA
Affymetrix, Illumina [2366197] (imputed)
13
bipolar disorder
http://purl.obolibrary.org/obo/MONDO_0004985
GCST000387
Genome-wide genotyping array
null
false
NA
false
2009-08-21
19,648,920
Wu X
2009-08-02
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19648920
Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer.
Bladder cancer
969 European ancestry cases, 957 European ancestry controls
5,698 European ancestry cases, 38,633 European ancestry controls
Illumina [556429]
1
urinary bladder carcinoma
http://purl.obolibrary.org/obo/MONDO_0004986
GCST000454
Genome-wide genotyping array
null
false
NA
false
2009-03-18
19,249,006
Xiong DH
2009-02-25
Am J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/19249006
Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups.
Bone mineral density
1,000 European ancestry individuals
4,925 European ancestry individuals, 350 Chinese ancestry hip fracture cases, 350 Chinese ancestry hip fracture controls, 2,955 Chinese ancestry individuals, 908 West African ancestry males
Affymetrix [379319]
2
bone tissue density
http://purl.obolibrary.org/obo/OBA_1000110
GCST000347
Genome-wide genotyping array
null
false
NA
false
2009-05-05
19,359,809
Hiura Y
2009-04-10
Circ J
www.ncbi.nlm.nih.gov/pubmed/19359809
Identification of genetic markers associated with high-density lipoprotein-cholesterol by genome-wide screening in a Japanese population: the Suita study.
HDL cholesterol
900 Japanese ancestry individuals
1,810 Japanese ancestry individuals
Illumina [368274]
1
high density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004612
GCST000377
Genome-wide genotyping array
null
false
NA
false
2009-09-30
19,740,415
Sha Q
2009-09-09
BMC Med Genet
www.ncbi.nlm.nih.gov/pubmed/19740415
Genome-wide association reveals three SNPs associated with sporadic amyotrophic lateral sclerosis through a two-locus analysis.
Amyotrophic lateral sclerosis (SNP x SNP interaction)
276 European ancestry cases, 271 European ancestry controls
NA
Illumina [549062]
0
sporadic amyotrophic lateral sclerosis
http://www.ebi.ac.uk/efo/EFO_0001357
GCST000482
Genome-wide genotyping array
null
false
NA
false
2008-08-11
18,668,548
Julia A
2008-08-01
Arthritis Rheum
www.ncbi.nlm.nih.gov/pubmed/18668548
Genome-wide association study of rheumatoid arthritis in the Spanish population: KLF12 as a risk locus for rheumatoid arthritis susceptibility.
Rheumatoid arthritis
400 European ancestry cases, 400 European ancestry controls
410 European ancestry cases, 394 European ancestry controls
Illumina [299918]
2
rheumatoid arthritis
http://www.ebi.ac.uk/efo/EFO_0000685
GCST000217
Genome-wide genotyping array
null
false
NA
false
2009-09-14
19,654,303
Broderick P
2009-08-04
Cancer Res
www.ncbi.nlm.nih.gov/pubmed/19654303
Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.
Lung cancer
1,952 European ancestry cases, 1,438 European ancestry controls
2,465 European ancestry cases, 3,005 European ancestry controls, 3,143 individuals, 3,762 individuals
Illumina [511919]
7
lung carcinoma
http://www.ebi.ac.uk/efo/EFO_0001071
GCST000459
Genome-wide genotyping array
null
false
NA
false
2008-06-10
18,455,228
Richards JB
2008-04-29
Lancet
www.ncbi.nlm.nih.gov/pubmed/18455228
Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study.
Bone mineral density
2,094 European ancestry female individuals
6,463 European ancestry individuals
Illumina [314075]
2
bone tissue density
http://purl.obolibrary.org/obo/OBA_1000110
GCST000182
Genome-wide genotyping array
null
false
NA
false
2008-09-08
18,439,552
Reiner AP
2008-04-24
Am J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/18439552
Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.
C-reactive protein
909 European ancestry individuals
5,106 European ancestry individuals
Illumina [317000]
3
C-reactive protein measurement
http://www.ebi.ac.uk/efo/EFO_0004458
GCST000179
Genome-wide genotyping array
null
false
NA
false
2009-03-30
19,300,499
Takeuchi F
2009-03-20
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/19300499
A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose.
Warfarin maintenance dose
1,053 European ancestry individuals
588 European ancestry individuals
Illumina [325997]
4
response to anticoagulant
http://purl.obolibrary.org/obo/GO_0061476
GCST000360
Genome-wide genotyping array
null
false
NA
false
2009-05-19
19,430,483
Newton-Cheh C
2009-05-10
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19430483
Genome-wide association study identifies eight loci associated with blood pressure.
Systolic blood pressure
34,433 European ancestry individuals
Up to 100,347 European ancestry individuals, up to 12,889 Indian Asian ancestry individuals
Affymetrix, Illumina [2497993] (imputed)
3
systolic blood pressure
http://www.ebi.ac.uk/efo/EFO_0006335
GCST000395
Genome-wide genotyping array
null
false
NA
false
2009-05-19
19,430,483
Newton-Cheh C
2009-05-10
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19430483
Genome-wide association study identifies eight loci associated with blood pressure.
Diastolic blood pressure
34,433 European ancestry individuals
Up to 100,347 European ancestry individuals, up to 12,889 Indian Asian ancestry individuals
Affymetrix, Illumina [2497993] (imputed)
6
diastolic blood pressure
http://www.ebi.ac.uk/efo/EFO_0006336
GCST000394
Genome-wide genotyping array
null
false
NA
false
2008-06-27
18,488,028
Sulem P
2008-05-18
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/18488028
Two newly identified genetic determinants of pigmentation in Europeans.
Blue vs. green eyes
5,130 Icelandic individuals
3,330 European ancestry individuals
Illumina [316515]
1
eye color
http://www.ebi.ac.uk/efo/EFO_0003949
GCST000192
Genome-wide genotyping array
null
false
NA
false
2008-06-27
18,488,028
Sulem P
2008-05-18
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/18488028
Two newly identified genetic determinants of pigmentation in Europeans.
Burning and freckling
5,130 Icelandic individuals
3,330 European ancestry individuals
Illumina [316515]
1
freckles, sunburn
http://www.ebi.ac.uk/efo/EFO_0003963, http://www.ebi.ac.uk/efo/EFO_0003958
GCST000196
Genome-wide genotyping array
null
false
NA
false
2008-07-01
18,488,028
Sulem P
2008-05-18
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/18488028
Two newly identified genetic determinants of pigmentation in Europeans.
Freckles
5,130 Icelandic individuals
3,330 European ancestry individuals
Illumina [316515]
1
freckles
http://www.ebi.ac.uk/efo/EFO_0003963
GCST000197
Genome-wide genotyping array
null
false
NA
false
2008-07-01
18,488,028
Sulem P
2008-05-18
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/18488028
Two newly identified genetic determinants of pigmentation in Europeans.
Skin sensitivity to sun
5,130 Icelandic individuals
3,330 European ancestry individuals
Illumina [316515]
1
skin sensitivity to sun
http://www.ebi.ac.uk/efo/EFO_0004795
GCST000195
Genome-wide genotyping array
null
false
NA
false
2008-06-27
18,488,028
Sulem P
2008-05-18
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/18488028
Two newly identified genetic determinants of pigmentation in Europeans.
Blond vs. brown hair color
5,130 European ancestry individuals
3,330 European ancestry individuals
Illumina [316515]
1
hair color
http://www.ebi.ac.uk/efo/EFO_0003924
GCST000194
Genome-wide genotyping array
null
false
NA
false
2008-06-27
18,488,028
Sulem P
2008-05-18
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/18488028
Two newly identified genetic determinants of pigmentation in Europeans.
Red vs. non-red hair color
5,130 European ancestry individuals
3,330 European ancestry individuals
Illumina [316515]
1
hair color
http://www.ebi.ac.uk/efo/EFO_0003924
GCST000193
Genome-wide genotyping array
null
false
NA
false
2009-04-10
18,711,366
Unoki H
2008-08-17
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/18711366
SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations.
Type 2 diabetes
194 Japanese ancestry cases, 1,558 Japanese ancestry controls
5,324 East Asian ancestry cases, 7,037 East Asian ancestry controls, 4,085 European ancestry cases, 5,302 European ancestry controls
Affymetrix [207097]
3
type 2 diabetes mellitus
http://purl.obolibrary.org/obo/MONDO_0005148
GCST000221
Genome-wide genotyping array
null
false
NA
false
2011-01-18
21,151,130
Painter JN
2010-12-12
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/21151130
Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis.
Endometriosis
3,194 European ancestry cases, 7,060 European ancestry controls
2,392 European ancestry cases, 2,271 European ancestry controls
Illumina [504723]
3
endometriosis
http://www.ebi.ac.uk/efo/EFO_0001065
GCST000916
Genome-wide genotyping array
null
false
NA
false
2013-11-06
23,658,558
Bae HT
2013-05-08
Front Genet
www.ncbi.nlm.nih.gov/pubmed/23658558
Genome-wide association study of personality traits in the long life family study.
Personality dimensions
Up to 2,631 European ancestry individuals
up to 1,287 European ancestry individuals, 1,084 individuals
Illumina [up to 38045518] (imputed)
0
personality trait
http://www.ebi.ac.uk/efo/EFO_0004365
GCST002015
Genome-wide genotyping array
null
false
NA
false
2013-11-06
23,658,558
Bae HT
2013-05-08
Front Genet
www.ncbi.nlm.nih.gov/pubmed/23658558
Genome-wide association study of personality traits in the long life family study.
Personality dimensions
Up to 4,595 European ancestry individuals
1,045 individuals
Illumina [up to 40038518] (imputed)
0
personality trait
http://www.ebi.ac.uk/efo/EFO_0004365
GCST002016
Genome-wide genotyping array
null
false
NA
false
2012-02-21
22,282,500
Chien JW
2012-01-26
Blood
www.ncbi.nlm.nih.gov/pubmed/22282500
Evaluation of published single nucleotide polymorphisms associated with acute GVHD.
Acute graft versus host disease
1,298 Allogenic hematopoietic cell transplantation donors and recipients
NA
Affymetrix [NR] (imputed)
0
acute graft vs. host disease
http://www.ebi.ac.uk/efo/EFO_0004599
GCST001386
Genome-wide genotyping array
null
false
NA
false
2012-11-20
22,959,728
Ahmeti KB
2012-09-05
Neurobiol Aging
www.ncbi.nlm.nih.gov/pubmed/22959728
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
Amyotrophic lateral sclerosis (age of onset)
4,243 European ancestry cases
NA
Illumina [254145]
13
age of onset of amyotrophic lateral sclerosis
http://purl.obolibrary.org/obo/OBA_2001018
GCST001663
Genome-wide genotyping array
null
false
NA
false
2012-11-20
22,959,728
Ahmeti KB
2012-09-05
Neurobiol Aging
www.ncbi.nlm.nih.gov/pubmed/22959728
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
Amyotrophic lateral sclerosis
4,243 European ancestry cases, 5,112 European ancestry controls
NA
Illumina [254145]
15
amyotrophic lateral sclerosis
http://purl.obolibrary.org/obo/MONDO_0004976
GCST001664
Genome-wide genotyping array
null
false
NA
false
2017-09-28
22,959,728
Ahmeti KB
2012-09-05
Neurobiol Aging
www.ncbi.nlm.nih.gov/pubmed/22959728
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
Amyotrophic lateral sclerosis (C9orf72 mutation interaction)
4,243 European ancestry cases
NA
Illumina [254145]
3
amyotrophic lateral sclerosis
http://purl.obolibrary.org/obo/MONDO_0004976
GCST004791
Genome-wide genotyping array
null
false
NA
true
2017-09-28
22,959,728
Ahmeti KB
2012-09-05
Neurobiol Aging
www.ncbi.nlm.nih.gov/pubmed/22959728
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
Amyotrophic lateral sclerosis in C9orf72 mutation negative individuals
Up to 4,243 European ancestry cases, up to 5,112 European ancestry controls
NA
Illumina [254145]
4
amyotrophic lateral sclerosis
http://purl.obolibrary.org/obo/MONDO_0004976
GCST004793
Genome-wide genotyping array
null
false
NA
false
2017-09-28
22,959,728
Ahmeti KB
2012-09-05
Neurobiol Aging
www.ncbi.nlm.nih.gov/pubmed/22959728
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
Amyotrophic lateral sclerosis in C9orf72 mutation positive individuals
up to 4,243 European ancestry cases, up to 5,112 European ancestry controls
NA
Illumina [254145]
6
amyotrophic lateral sclerosis
http://purl.obolibrary.org/obo/MONDO_0004976
GCST004792
Genome-wide genotyping array
null
false
NA
false
2012-12-04
23,017,229
Voruganti VS
2012-09-24
Cytokine
www.ncbi.nlm.nih.gov/pubmed/23017229
Genome-wide association replicates the association of Duffy antigen receptor for chemokines (DARC) polymorphisms with serum monocyte chemoattractant protein-1 (MCP-1) levels in Hispanic children.
Monocyte chemoattractant protein-1 levels
815 Hispanic children
NA
Illumina [NR]
5
C-C motif chemokine 2 level
http://purl.obolibrary.org/obo/OBA_2045327
GCST001691
Genome-wide genotyping array
null
false
NA
false
2013-01-30
23,149,450
Otowa T
2012-11-13
Transl Psychiatry
www.ncbi.nlm.nih.gov/pubmed/23149450
Meta-analysis of genome-wide association studies for panic disorder in the Japanese population.
Panic disorder
718 Japanese ancestry cases, 1,717 Japanese ancestry controls
329 Japanese ancestry cases, 861 Japanese ancestry controls
Affymetrix [1900000] (imputed)
0
panic disorder
http://www.ebi.ac.uk/efo/EFO_0004262
GCST001742
Genome-wide genotyping array
null
false
NA
false
2014-05-13
24,185,611
Cook MB
2013-11-02
Hum Genet
www.ncbi.nlm.nih.gov/pubmed/24185611
A genome-wide association study of prostate cancer in West African men.
Prostate cancer
474 West African ancestry cases, 458 West African ancestry controls
5,096 African American cases, 4,972 African American controls
Illumina [2837019]
0
prostate carcinoma
http://www.ebi.ac.uk/efo/EFO_0001663
GCST002264
Genome-wide genotyping array
null
false
NA
false
2013-01-09
23,100,282
Hopewell JC
2012-10-24
Eur Heart J
www.ncbi.nlm.nih.gov/pubmed/23100282
Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study.
Response to statin therapy
3,895 European ancestry individuals
14,810 individuals
Illumina [546210]
0
response to statin
http://purl.obolibrary.org/obo/GO_0036273
GCST001716
Genome-wide genotyping array
null
false
NA
false
2012-12-06
22,993,228
Williams FM
2012-09-19
Ann Rheum Dis
www.ncbi.nlm.nih.gov/pubmed/22993228
Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.
Disc degeneration (lumbar)
4,683 European ancestry individuals
NA
Affymetrix, Illumina [2552511] (imputed)
35
lumbar disc degeneration
http://www.ebi.ac.uk/efo/EFO_0004994
GCST001687
Genome-wide genotyping array
null
false
NA
false
2012-11-30
22,982,992
Yang J
2012-09-12
Nature
www.ncbi.nlm.nih.gov/pubmed/22982992
FTO genotype is associated with phenotypic variability of body mass index.
Body mass index
133,154 European ancestry individuals
59,325 European ancestry individuals
Affymetrix, Illumina, Perlegen [~ 2440000] (imputed)
1
body mass index
http://www.ebi.ac.uk/efo/EFO_0004340
GCST001676
Genome-wide genotyping array
null
true
http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/GCST001001-GCST002000/GCST001676
false
2011-07-21
20,834,067
Yashin AI
2010-09-01
Aging (Albany NY)
www.ncbi.nlm.nih.gov/pubmed/20834067
Joint influence of small-effect genetic variants on human longevity.
Longevity
1,173 individuals
NA
NR [~ 550000]
39
life span determination trait
http://purl.obolibrary.org/obo/OBA_VT0005372
GCST000785
Genome-wide genotyping array
null
false
NA
false
2012-11-28
22,885,689
Levinson DF
2012-09-01
Am J Psychiatry
www.ncbi.nlm.nih.gov/pubmed/22885689
Genome-wide association study of multiplex schizophrenia pedigrees.
Schizophrenia
1,218 European ancestry cases, 990 European ancestry controls, 139 cases, 114 controls
NA
Illumina [up to 531195]
11
schizophrenia
http://purl.obolibrary.org/obo/MONDO_0005090
GCST001657
Genome-wide genotyping array
null
false
NA
false
2012-12-05
23,010,768
Meier S
2012-09-25
Transl Psychiatry
www.ncbi.nlm.nih.gov/pubmed/23010768
Genome-wide significant association between a 'negative mood delusions' dimension in bipolar disorder and genetic variation on chromosome 3q26.1.
Bipolar disorder (Negative mood delusions)
927 European ancestry cases, 2,168 European ancestry controls
1,247 European ancestry cases, 1,434 European ancestry controls
Illumina [378570]
0
bipolar disorder
http://purl.obolibrary.org/obo/MONDO_0004985
GCST001695
Genome-wide genotyping array
null
false
NA
false
2012-12-02
23,001,122
Orr N
2012-09-23
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/23001122
Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk.
Breast cancer (male)
823 European ancestry cases, 2,795 European ancestry controls
438 European ancestry cases, 474 European ancestry controls
Illumina [447760]
3
male breast carcinoma
http://www.ebi.ac.uk/efo/EFO_0006861
GCST001690
Genome-wide genotyping array
null
false
NA
false
2012-04-18
22,419,666
Shi M
2012-03-14
Am J Med Genet A
www.ncbi.nlm.nih.gov/pubmed/22419666
Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.
Orofacial clefts
1,094 European ancestry triads, 1,277 Asian ancestry triads, 87 triads
NA
Illumina [NR]
17
orofacial cleft
http://purl.obolibrary.org/obo/MONDO_0000358
GCST001442
Genome-wide genotyping array
null
false
NA
false
2012-06-18
22,541,561
Zhao H
2012-04-26
Am J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/22541561
A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia.
Non-obstructive azoospermia
802 Han Chinese ancestry cases, 1,863 Han Chinese ancestry controls
1,424 Han Chinese ancestry cases, 2,713 Han Chinese ancestry controls
Affymetrix, Illumina [912924]
1
azoospermia
http://www.ebi.ac.uk/efo/EFO_0000279
GCST001494
Genome-wide genotyping array
null
false
NA
false
2012-09-20
22,773,346
Edwards DR
2012-07-07
Age (Dordr)
www.ncbi.nlm.nih.gov/pubmed/22773346
Linkage and association of successful aging to the 6q25 region in large Amish kindreds.
Aging
263 Amish individuals aged 80 years or older
NA
Affymetrix [630309]
8
aging
http://www.ebi.ac.uk/efo/EFO_0022597
GCST001599
Genome-wide genotyping array
null
false
NA
false
2012-11-30
23,028,347
Liu F
2012-09-13
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/23028347
A genome-wide association study identifies five loci influencing facial morphology in Europeans.
Facial morphology
5,388 European ancestry individuals
4,071 European ancestry individuals
Affymetrix, Illumina [2558979] (imputed)
0
facial morphology
http://www.ebi.ac.uk/efo/EFO_0004743
GCST001678
Genome-wide genotyping array
null
false
NA
false
2012-10-24
21,833,088
Sawcer S
2011-08-11
Nature
www.ncbi.nlm.nih.gov/pubmed/21833088
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
Multiple sclerosis
9,772 European ancestry cases, 16,849 European ancestry controls
4,218 European ancestry cases, 7,296 European ancestry controls
Illumina [465434]
87
multiple sclerosis
http://purl.obolibrary.org/obo/MONDO_0005301
GCST001198
Genome-wide genotyping array
null
true
http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/GCST001001-GCST002000/GCST001198
false
2012-04-28
22,456,796
Imamura M
2012-03-28
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/22456796
A single-nucleotide polymorphism in ANK1 is associated with susceptibility to type 2 diabetes in Japanese populations.
Type 2 diabetes
4,470 Japanese ancestry cases, 3,071 Japanese ancestry controls
7,605 Japanese ancestry cases, 3,534 Japanese ancestry controls
NR [2229890] (imputed)
4
type 2 diabetes mellitus
http://purl.obolibrary.org/obo/MONDO_0005148
GCST001461
Genome-wide genotyping array
null
false
NA
false
2012-06-22
22,558,069
Osman W
2012-04-27
PLoS One
www.ncbi.nlm.nih.gov/pubmed/22558069
Association of common variants in TNFRSF13B, TNFSF13, and ANXA3 with serum levels of non-albumin protein and immunoglobulin isotypes in Japanese.
Non-albumin protein levels
Up to 9,103 Japanese ancestry individuals
Up to 1,629 Japanese ancestry individuals
Illumina [2178644] (imputed)
5
level of serum globulin type protein
http://purl.obolibrary.org/obo/OBA_2045206
GCST001496
Genome-wide genotyping array
null
false
NA
false
2010-09-23
20,729,852
Abnet CC
2010-08-22
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/20729852
A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma.
Esophageal cancer and gastric cancer
1,625 Chinese ancestry gastric cancer cases, 1,898 Chinese ancestry ESCC cases, 2,100 Chinese ancestry controls
NA
Illumina [551152]
4
esophageal carcinoma, gastric carcinoma
http://www.ebi.ac.uk/efo/EFO_0002916, http://www.ebi.ac.uk/efo/EFO_0000178
GCST000777
Genome-wide genotyping array
null
false
NA
false
2012-05-25
22,504,419
Taal HR
2012-04-15
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/22504419
Common variants at 12q15 and 12q24 are associated with infant head circumference.
Head circumference (infant)
10,768 European ancestry infants
8,321 European ancestry infants
Affymetrix, Illumina [~ 2400000] (imputed)
3
head circumference
http://purl.obolibrary.org/obo/OBA_VT0000047
GCST001484
Genome-wide genotyping array
null
false
NA
false
2015-05-12
21,729,881
Major JM
2011-07-05
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/21729881
Genome-wide association study identifies common variants associated with circulating vitamin E levels.
Vitamin E levels
2,402 European ancestry cases, 1612 European ancestry controls
475 European ancestry cases, 517 European ancestry controls, 1,416 cases, 1,359 controls
Illumina [NR]
3
Vitamin E level
http://purl.obolibrary.org/obo/OBA_1000955
GCST001142
Genome-wide genotyping array
null
false
NA
false
2012-09-18
22,814,818
Hoehn R
2012-07-20
Hum Genet
www.ncbi.nlm.nih.gov/pubmed/22814818
Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness.
Central corneal thickness
3,931 European ancestry individuals
1,418 European ancestry individuals
Affymetrix [NR] (imputed)
2
eye measurement
http://www.ebi.ac.uk/efo/EFO_0004731
GCST001614
Genome-wide genotyping array
null
false
NA
false
2012-08-20
22,747,683
Eriksson N
2012-06-30
BMC Med Genet
www.ncbi.nlm.nih.gov/pubmed/22747683
Genetic variants associated with breast size also influence breast cancer risk.
Breast size
16,175 European ancestry female individuals
NA
Illumina [7422970] (imputed)
38
breast size
http://purl.obolibrary.org/obo/OBA_1000025
GCST001585
Genome-wide genotyping array
null
false
NA
false
2010-06-22
20,522,523
Kasperaviciute D
2010-06-03
Brain
www.ncbi.nlm.nih.gov/pubmed/20522523
Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.
Partial epilepsies
Up to 3,445 European ancestry cases, 6,935 European ancestry controls
NA
Illumina [528745]
6
partial epilepsy
http://www.ebi.ac.uk/efo/EFO_0004263
GCST000691
Genome-wide genotyping array
null
false
NA
false
2012-09-12
22,763,476
Zhang D
2012-07-05
Hypertens Res
www.ncbi.nlm.nih.gov/pubmed/22763476
Genome-wide linkage and association scans for pulse pressure in Chinese twins.
Blood pressure
63 Chinese ancestry dizygotic twin pairs
NA
Affymetrix [~ 900000]
4
blood pressure trait
http://purl.obolibrary.org/obo/OBA_VT0000183
GCST001598
Genome-wide genotyping array
null
false
NA
false
2011-10-01
21,896,673
Chen D
2011-09-10
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/21896673
Genome-wide association study of HPV seropositivity.
HPV seropositivity
1,286 European ancestry lung cancer cases, 679 European ancestry head and neck cancer cases, 811 European ancestry kidney cancer cases, 2,035 European ancestry controls
1,307 Hispanic head and neck cancer cases, 1,037 Hispanic controls
Illumina [316015]
1
HPV seropositivity
http://www.ebi.ac.uk/efo/EFO_0004510
GCST001225
Genome-wide genotyping array
null
false
NA
false
2011-10-11
21,909,110
Wain LV
2011-09-11
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/21909110
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
Blood pressure
74,064 European ancestry individuals
48,607 European ancestry individuals
Affymetrix, Illumina, Perlegen [NR] (imputed)
27
blood pressure trait
http://purl.obolibrary.org/obo/OBA_VT0000183
GCST001236
Genome-wide genotyping array
null
false
NA
false
2011-10-11
21,909,110
Wain LV
2011-09-11
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/21909110
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
Blood pressure
74,064 European ancestry individuals
48,607 European ancestry individuals
Affymetrix, Illumina, Perlegen [NR] (imputed)
14
blood pressure trait
http://purl.obolibrary.org/obo/OBA_VT0000183
GCST001235
Genome-wide genotyping array
null
false
NA
false
2008-06-16
17,053,108
Dewan A
2006-10-19
Science
www.ncbi.nlm.nih.gov/pubmed/17053108
HTRA1 promoter polymorphism in wet age-related macular degeneration.
Age-related macular degeneration (wet)
96 South East Asian ancestry cases, 130 South East Asian ancestry controls
NA
Affymetrix [97824]
1
age-related macular degeneration
http://www.ebi.ac.uk/efo/EFO_0001365
GCST000006
Genome-wide genotyping array
null
false
NA
false
2011-07-14
21,685,912
Hoglinger GU
2011-06-19
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/21685912
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
Progressive supranuclear palsy
1,069 European ancestry cases, 2,958 European ancestry controls, 45 cases, 329 controls
1,051 European ancestry cases, 3,560 European ancestry controls
Illumina [531451]
11
progressive supranuclear palsy
http://purl.obolibrary.org/obo/MONDO_0019037
GCST001116
Genome-wide genotyping array
null
false
NA
false
2010-09-07
20,662,065
Clancy RM
2010-07-26
Arthritis Rheum
www.ncbi.nlm.nih.gov/pubmed/20662065
Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus.
Neonatal lupus
116 European ancestry cases, 3,351 European ancestry controls
NA
Illumina [346110]
5
neonatal systemic lupus erythematosus
http://www.ebi.ac.uk/efo/EFO_0004537
GCST000738
Genome-wide genotyping array
null
false
NA
false
2010-09-11
20,686,651
Gudbjartsson DF
2010-07-29
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/20686651
Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.
Chronic kidney disease and serum creatinine levels
1,689 European ancestry cases, 37,076 European ancestry controls
1,972 European ancestry cases, 6,125 European ancestry controls
Illumina [~ 2500000] (imputed)
4
chronic kidney disease, serum creatinine amount
http://www.ebi.ac.uk/efo/EFO_0003884, http://purl.obolibrary.org/obo/OBA_2050096
GCST000742
Genome-wide genotyping array
null
false
NA
false
2012-07-11
22,561,518
Jin Y
2012-05-06
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/22561518
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
Vitiligo
418 European ancestry cases, 2,810 European ancestry controls
1,377 European ancestry cases, 1,284 European ancestry controls
Illumina [495821]
14
Vitiligo
http://www.ebi.ac.uk/efo/EFO_0004208
GCST001509
Genome-wide genotyping array
null
true
http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/GCST001001-GCST002000/GCST001509
false
2012-07-13
22,544,364
Turnbull C
2012-04-29
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/22544364
A genome-wide association study identifies susceptibility loci for Wilms tumor.
Wilms tumor
757 European ancestry cases, 1,879 European ancestry controls
1,488 European ancestry cases, 3,851 European ancestry controls
Illumina [599255]
7
Nephroblastoma
http://www.orpha.net/ORDO/Orphanet_654
GCST001500
Genome-wide genotyping array
null
false
NA
false
2012-08-16
22,693,232
Zhou J
2012-06-12
J Infect Dis
www.ncbi.nlm.nih.gov/pubmed/22693232
A functional variation in CD55 increases the severity of 2009 pandemic H1N1 influenza A virus infection.
Influenza (severity)
25 Chinese ancestry severe cases, 26 Chinese ancestry controls
152 Chinese ancestry severe cases, 222 Chinese ancestry controls
Affymetrix [~ 1000000]
0
influenza
http://www.ebi.ac.uk/efo/EFO_0007328
GCST001568
Genome-wide genotyping array
null
false
NA
false
2010-09-11
20,707,712
Mosing MA
2010-08-01
Twin Res Hum Genet
www.ncbi.nlm.nih.gov/pubmed/20707712
A genome-wide association study of self-rated health.
Self-rated health
6,706 European individuals from 2,585 independent families
NA
Illumina [2380486] (imputed)
10
self rated health
http://www.ebi.ac.uk/efo/EFO_0004778
GCST000747
Genome-wide genotyping array
null
false
NA
false
2012-03-09
22,306,652
Bellenguez C
2012-02-05
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/22306652
Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke.
Stroke
3,548 European ancestry cases, 5,972 European ancestry controls
6,594 European ancestry cases, 34,864 European ancestry controls
Illumina [495851]
1
stroke
http://www.ebi.ac.uk/efo/EFO_0000712
GCST001400
Genome-wide genotyping array
null
false
NA
false
2013-11-09
23,666,240
Ruark E
2013-05-12
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/23666240
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
Testicular germ cell tumor
986 European ancestry cases, 4,946 European ancestry controls
1,064 European ancestry cases, 10,082 European ancestry controls
Illumina [307291]
15
testicular carcinoma
http://www.ebi.ac.uk/efo/EFO_0005088
GCST002022
Genome-wide genotyping array
null
false
NA
false
2010-09-14
20,732,627
Neale BM
2010-08-05
J Am Acad Child Adolesc Psychiatry
www.ncbi.nlm.nih.gov/pubmed/20732627
Case-control genome-wide association study of attention-deficit/hyperactivity disorder.
Attention deficit hyperactivity disorder
896 European ancestry cases, 2,455 European ancestry controls
null
Affymetrix [1033244] (imputed)
0
attention deficit hyperactivity disorder
http://www.ebi.ac.uk/efo/EFO_0003888
GCST000757
Genome-wide genotyping array
null
false
NA
false
2012-09-21
22,843,503
Qi Q
2012-07-26
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/22843503
Genome-wide association analysis identifies TYW3/CRYZ and NDST4 loci associated with circulating resistin levels.
Resistin levels
3,248 European ancestry individuals
659 European ancestry individuals
Affymetrix, Illumina [2543887] (imputed)
4
resistin measurement
http://www.ebi.ac.uk/efo/EFO_0004819
GCST001620
Genome-wide genotyping array
null
false
NA
false
2010-12-09
20,978,177
Penney KL
2010-10-26
Cancer Epidemiol Biomarkers Prev
www.ncbi.nlm.nih.gov/pubmed/20978177
Genome-wide association study of prostate cancer mortality.
Prostate cancer mortality
196 European ancestry lethal cases, 368 European ancestry long-term survivor cases
500 European ancestry lethal cases, 155 European ancestry long-term survivor cases
Affymetrix [419613]
0
survival time, metastatic prostate cancer
http://www.ebi.ac.uk/efo/EFO_0000714, http://www.ebi.ac.uk/efo/EFO_0000196
GCST000844
Genome-wide genotyping array
null
false
NA
false
2012-08-10
23,505,185
Plourde M
2012-06-28
Obesity (Silver Spring)
www.ncbi.nlm.nih.gov/pubmed/23505185
A variant in the LRRFIP1 gene is associated with adiposity and inflammation.
Adiposity
928 French Canadian individuals
NA
Illumina [543714]
1
obesity
http://www.ebi.ac.uk/efo/EFO_0001073
GCST001583
Genome-wide genotyping array
null
false
NA
false
2012-09-26
22,843,504
Anney R
2012-07-26
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/22843504
Individual common variants exert weak effects on the risk for autism spectrum disorders.
Autism
1,419 European ancestry cases from 1416 families
1,314 European ancestry cases from 1301 families
Illumina [947233]
4
autism
http://www.ebi.ac.uk/efo/EFO_0003758
GCST001619
Genome-wide genotyping array
null
false
NA
false
2013-04-09
23,290,196
Hek K
2013-01-02
Biol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/23290196
A genome-wide association study of depressive symptoms.
Depression (quantitative trait)
up to 34,549 European ancestry individuals
up to 16,709 European ancestry individuals
Affymetrix, Illumina [2391896] (imputed)
2
major depressive disorder
http://purl.obolibrary.org/obo/MONDO_0002009
GCST001802
Genome-wide genotyping array
null
false
NA
false
2012-08-14
22,832,964
David SP
2012-05-22
Transl Psychiatry
www.ncbi.nlm.nih.gov/pubmed/22832964
Genome-wide meta-analyses of smoking behaviors in African Americans.
Smoking behavior
Up to 32,389 African American individuals
NA
Affymetrix, Illumina [~ 2900000] (imputed)
5
smoking behavior
http://www.ebi.ac.uk/efo/EFO_0004318
GCST001539
Genome-wide genotyping array
null
false
NA
false
2015-05-06
23,575,227
Urbanek M
2013-04-10
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/23575227
The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association study.
Anthropometric traits in newborns
1,095 Afro-Caribbean individuals, 1,363 European ancestry individuals, 616 Mexican American individuals, 1,207 Thai ancestry individuals
2,296 European ancestry individuals
Illumina [up to 3563305] (imputed)
5
anthropometric measurement
http://www.ebi.ac.uk/efo/EFO_0004302
GCST001964
Genome-wide genotyping array
null
false
NA
false
2013-08-02
23,544,013
Couch FJ
2013-03-27
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/23544013
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
Ovarian cancer in BRCA1 mutation carriers
683 European ancestry cases, 2,044 European ancestry controls
1,706 European ancestry cases, 10,258 European ancestry controls
Illumina [2568349] (imputed)
7
ovarian carcinoma
http://www.ebi.ac.uk/efo/EFO_0001075
GCST001917
Genome-wide genotyping array
null
false
NA
false
2013-08-02
23,544,013
Couch FJ
2013-03-27
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/23544013
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
Breast Cancer in BRCA1 mutation carriers
1,426 European ancestry cases, 1,301 European ancestry controls
6,031 European ancestry cases, 5,933 European ancestry controls
Illumina [2568349] (imputed)
6
breast carcinoma
http://www.ebi.ac.uk/efo/EFO_0000305
GCST001916
Genome-wide genotyping array
null
false
NA
false
2013-03-27
23,300,278
Saxena R
2013-01-08
Diabetes
www.ncbi.nlm.nih.gov/pubmed/23300278
Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.
Type 2 diabetes
842 Punjabi Sikh ancestry cases, 774 Punjabi Sikh ancestry controls
up to 2,512 Punjabi Sikh ancestry cases and 3,201 Punjabi Sikh ancestry controls, up to 16,128 South Asian ancestry cases and 23,846 South Asian ancestry controls, up to 16,746 East Asian ancestry cases and 16,961 East Asian ancestry controls, up to 8,130 European ancestry cases and 38,987 European ancestry controls
Illumina [1232008] (imputed)
17
type 2 diabetes mellitus
http://purl.obolibrary.org/obo/MONDO_0005148
GCST001809
Genome-wide genotyping array
null
false
NA
false
2012-09-18
22,843,499
Boraska V
2012-07-27
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/22843499
Genome-wide meta-analysis of common variant differences between men and women.
Sex ratio at birth
61,094 European ancestry female individuals, 53,769 European ancestry male individuals
NA
Affymetrix, Illumina [2623828] (imputed)
0
sex ratio
http://www.ebi.ac.uk/efo/EFO_0004820
GCST001625
Genome-wide genotyping array
null
false
NA
false
2013-05-02
23,364,009
Yang X
2013-01-30
Am J Clin Nutr
www.ncbi.nlm.nih.gov/pubmed/23364009
Common variants at 12q24 are associated with drinking behavior in Han Chinese.
Drinking behavior
1,420 Han Chinese ancestry cases, 3,590 Han Chinese ancestry controls
4,896 Han Chinese ancestry cases, 13,293 Han Chinese ancestry controls
Affymetrix [~ 2200000] (imputed)
1
drinking behavior
http://www.ebi.ac.uk/efo/EFO_0004315
GCST001842
Genome-wide genotyping array
null
false
NA
false
2013-07-01
23,508,960
Zhou G
2013-03-18
J Biol Chem
www.ncbi.nlm.nih.gov/pubmed/23508960
Aspirin hydrolysis in plasma is a variable function of butyrylcholinesterase and platelet-activating factor acetylhydrolase 1b2 (PAFAH1b2).
Aspirin hydrolysis (plasma)
2,054 European ancestry individuals
null
Affymetrix [2421779] (imputed)
1
aspirin hydrolysis measurement
http://www.ebi.ac.uk/efo/EFO_0005211
GCST001910
Genome-wide genotyping array
null
false
NA
false
2013-07-31
23,455,636
Fritsche LG
2013-03-03
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/23455636
Seven new loci associated with age-related macular degeneration.
Age-related macular degeneration
6,713 European ancestry cases, 48,402 European ancestry contols, 110 Southern Indian ancestry cases, 119 Southern Indian ancestry controls, 827 Japanese ancestry cases, 3,323 Japanese ancestry controls
9,070 European ancestry cases, 7,683 European ancestry contols, 461 East Asian ancestry cases, 547 East Asian ancestry controls
Affymetrix, Illumina [2442884] (imputed)
19
age-related macular degeneration
http://www.ebi.ac.uk/efo/EFO_0001365
GCST001884
Genome-wide genotyping array
null
false
NA
false
2013-07-31
23,534,349
Jeff JM
2013-03-28
Ann Hum Genet
www.ncbi.nlm.nih.gov/pubmed/23534349
Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.
QT interval
455 African American individuals
NA
Illumina [> 930000]
8
QT interval
http://www.ebi.ac.uk/efo/EFO_0004682
GCST001922
Genome-wide genotyping array
null
false
NA
false
2013-07-31
23,534,349
Jeff JM
2013-03-28
Ann Hum Genet
www.ncbi.nlm.nih.gov/pubmed/23534349
Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.
Heart rate
455 African American individuals
NA
Illumina [> 930000]
5
heart rate
http://purl.obolibrary.org/obo/OBA_1001087
GCST001921
Genome-wide genotyping array
null
false
NA
false
2013-07-31
23,534,349
Jeff JM
2013-03-28
Ann Hum Genet
www.ncbi.nlm.nih.gov/pubmed/23534349
Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.
PR interval
455 African American individuals
NA
Illumina [> 930000]
9
PR interval
http://www.ebi.ac.uk/efo/EFO_0004462
GCST001925
Genome-wide genotyping array
null
false
NA
false
2013-07-31
23,534,349
Jeff JM
2013-03-28
Ann Hum Genet
www.ncbi.nlm.nih.gov/pubmed/23534349
Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.
QRS duration
455 African American individuals
NA
Illumina [> 930000]
9
QRS duration
http://purl.obolibrary.org/obo/OBA_1001086
GCST001920
Genome-wide genotyping array
null
false
NA
false
2013-07-27
23,511,034
Yang SK
2013-04-01
Inflamm Bowel Dis
www.ncbi.nlm.nih.gov/pubmed/23511034
Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.
Ulcerative colitis
388 Korean ancestry cases, 739 Korean ancestry controls
810 Korean ancestry cases, 1709 Korean ancestry controls
Illumina [581060]
1
ulcerative colitis
http://www.ebi.ac.uk/efo/EFO_0000729
GCST001934
Genome-wide genotyping array
null
false
NA
false
2013-07-27
23,511,034
Yang SK
2013-04-01
Inflamm Bowel Dis
www.ncbi.nlm.nih.gov/pubmed/23511034
Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.
Ulcerative colitis
388 Korean ancestry cases, 739 Korean ancestry controls
417 Korean ancestry cases, 732 Korean ancestry controls
Illumina [581060]
7
ulcerative colitis
http://www.ebi.ac.uk/efo/EFO_0000729
GCST001938
Genome-wide genotyping array
null
false
NA
false
2013-04-12
22,075,249
Tang WH
2011-11-10
Arterioscler Thromb Vasc Biol
www.ncbi.nlm.nih.gov/pubmed/22075249
Clinical and genetic association of serum ceruloplasmin with cardiovascular risk.
Serum ceruloplasmin levels
2,647 European ancestry individuals
2,050 European ancestry individuals
Affymetrix [2421770] (imputed)
1
serum ceruloplasmin amount
http://purl.obolibrary.org/obo/OBA_2050073
GCST001318
Genome-wide genotyping array
null
false
NA
false
2012-12-04
22,990,015
Arning A
2012-09-20
Blood
www.ncbi.nlm.nih.gov/pubmed/22990015
A genome-wide association study identifies a gene network of ADAMTS genes in the predisposition to pediatric stroke.
Stroke (pediatric)
270 European ancestry trios
NA
Illumina [334581]
4
stroke
http://www.ebi.ac.uk/efo/EFO_0000712
GCST001689
Genome-wide genotyping array
null
false
NA
false
2012-12-16
23,001,997
Hou S
2012-12-06
Arthritis Rheum
www.ncbi.nlm.nih.gov/pubmed/23001997
Identification of a susceptibility locus in STAT4 for Behçet's disease in Han Chinese in a genome-wide association study.
Behcet's disease
147 Han Chinese ancestry cases, 951 Han Chinese ancestry controls
554 Han Chinese ancestry cases, 1,159 Han Chinese ancestry controls
Affymetrix [661736]
6
Behcet's syndrome
http://www.ebi.ac.uk/efo/EFO_0003780
GCST001768
Genome-wide genotyping array
null
false
NA
false
2012-11-29
23,000,144
Nakamura M
2012-09-18
Am J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/23000144
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
Primary biliary cholangitis
487 Japanese ancestry cases, 476 Japanese ancestry controls
787 Japanese ancestry cases, 615 Japanese ancestry controls
Affymetrix [421245]
7
biliary liver cirrhosis
http://www.ebi.ac.uk/efo/EFO_0004267
GCST001685
Genome-wide genotyping array
null
true
http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/GCST001001-GCST002000/GCST001685
false
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
733 European ancestry cases
139 European ancestry cases, 151 Japanese ancestry cases
Illumina [~ 2000000] (imputed)
1
response to TNF antagonist
http://www.ebi.ac.uk/efo/EFO_0004653
GCST001926
Genome-wide genotyping array
null
false
NA
false