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stringlengths
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2 classes
2010-10-07
20,876,611
Wu Y
2010-09-27
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/20876611
Genome-wide association study for adiponectin levels in Filipino women identifies CDH13 and a novel uncommon haplotype at KNG1-ADIPOQ.
Adiponectin levels
1,776 Filipino ancestry female individuals
1,774 Filipino ancestry offspring
Affymetrix [2073674] (imputed)
3
adiponectin measurement
http://www.ebi.ac.uk/efo/EFO_0004502
GCST000812
Genome-wide genotyping array
null
false
NA
false
2013-06-18
23,703,922
Li WD
2013-01-02
Obesity (Silver Spring)
www.ncbi.nlm.nih.gov/pubmed/23703922
A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls.
Uric acid levels
487 European ancestry obese individuals, 472 non-obese individuals
NA
Illumina [~ 550000]
6
uric acid measurement
http://www.ebi.ac.uk/efo/EFO_0004761
GCST001801
Genome-wide genotyping array
null
false
NA
false
2011-01-13
21,051,598
Pereyra F
2010-11-04
Science
www.ncbi.nlm.nih.gov/pubmed/21051598
The major genetic determinants of HIV-1 control affect HLA class I peptide presentation.
HIV-1 control
516 European cases, 1,196 European controls, 341 African American cases, 892 African American controls, 117 Hispanic cases, 560 Hispanic controls
NA
Illumina [1384048] (imputed)
8
HIV-1 infection
http://www.ebi.ac.uk/efo/EFO_0000180
GCST000863
Genome-wide genotyping array
null
false
NA
false
2010-09-16
20,694,014
Thye T
2010-08-08
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/20694014
Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.
Tuberculosis
2,237 Sub-Saharan African ancestry cases, 3,122 Sub-Saharan African ancestry controls
1,462 Sub-Saharan African ancestry cases, 4,604 Sub-Saharan African ancestry controls
Affymetrix [> 333754] (imputed)
14
tuberculosis
http://purl.obolibrary.org/obo/MONDO_0018076
GCST000764
Genome-wide genotyping array
null
false
NA
false
2010-09-15
20,700,443
Meyer TE
2010-08-05
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/20700443
Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.
Magnesium levels
15,366 European ancestry individuals
8,463 European ancestry individuals
Affymetrix, Illumina [~ 2500000] (imputed)
9
magnesium measurement
http://www.ebi.ac.uk/efo/EFO_0004845
GCST000756
Genome-wide genotyping array
null
false
NA
false
2011-06-25
21,654,844
Briggs FB
2011-06-09
Genes Immun
www.ncbi.nlm.nih.gov/pubmed/21654844
Genome-wide association study of severity in multiple sclerosis.
Multiple sclerosis
1,470 European ancestry cases
NA
Affymetrix [2110417] (imputed)
6
multiple sclerosis
http://purl.obolibrary.org/obo/MONDO_0005301
GCST001096
Genome-wide genotyping array
null
false
NA
false
2009-01-12
19,060,906
Kathiresan S
2008-12-07
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19060906
Common variants at 30 loci contribute to polygenic dyslipidemia.
HDL cholesterol
19,840 European ancestry individuals
Up to 20,623 European ancestry individuals
Affymetrix, Illumina [~ 2600000] (imputed)
14
high density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004612
GCST000290
Genome-wide genotyping array
null
false
NA
false
2009-01-14
19,060,906
Kathiresan S
2008-12-07
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19060906
Common variants at 30 loci contribute to polygenic dyslipidemia.
LDL cholesterol
19,840 European ancestry individuals
Up to 20,623 European ancestry individuals
Affymetrix, Illumina [~ 2600000] (imputed)
11
low density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004611
GCST000287
Genome-wide genotyping array
null
false
NA
false
2009-01-12
19,060,906
Kathiresan S
2008-12-07
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19060906
Common variants at 30 loci contribute to polygenic dyslipidemia.
Triglycerides
19,840 European ancestry individuals
Up to 20,623 European ancestry individuals
Affymetrix, Illumina [~ 2600000] (imputed)
11
triglyceride measurement
http://www.ebi.ac.uk/efo/EFO_0004530
GCST000286
Genome-wide genotyping array
null
false
NA
false
2011-07-20
21,658,281
Aouizerat BE
2011-06-10
BMC Cardiovasc Disord
www.ncbi.nlm.nih.gov/pubmed/21658281
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
Sudden cardiac arrest
88 European ancestry cases, 517 European ancestry controls
NA
Affymetrix [319222]
6
sudden cardiac arrest
http://www.ebi.ac.uk/efo/EFO_0004278
GCST001102
Genome-wide genotyping array
null
false
NA
false
2011-07-20
21,658,281
Aouizerat BE
2011-06-10
BMC Cardiovasc Disord
www.ncbi.nlm.nih.gov/pubmed/21658281
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
Sudden cardiac arrest
88 European ancestry cases, 517 European ancestry controls
NA
Affymetrix [319222]
7
sudden cardiac arrest
http://www.ebi.ac.uk/efo/EFO_0004278
GCST001104
Genome-wide genotyping array
null
false
NA
false
2011-07-20
21,658,281
Aouizerat BE
2011-06-10
BMC Cardiovasc Disord
www.ncbi.nlm.nih.gov/pubmed/21658281
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
Sudden cardiac arrest
88 European ancestry cases, 517 European ancestry controls
NA
Affymetrix [319222]
36
sudden cardiac arrest
http://www.ebi.ac.uk/efo/EFO_0004278
GCST001099
Genome-wide genotyping array
null
false
NA
false
2009-05-12
19,414,484
Johnson AD
2009-05-04
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/19414484
Genome-wide association meta-analysis for total serum bilirubin levels.
Bilirubin levels
9,464 individuals
NA
Affymetrix, Illumina [2555103] (imputed)
8
bilirubin measurement
http://www.ebi.ac.uk/efo/EFO_0004570
GCST000386
Genome-wide genotyping array
null
false
NA
false
2009-06-22
19,096,518
Pare G
2008-12-19
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/19096518
Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study.
Glycated hemoglobin levels
14,618 European ancestry females
455 European ancestry individuals
Illumina [337343]
4
HbA1c measurement
http://www.ebi.ac.uk/efo/EFO_0004541
GCST000303
Genome-wide genotyping array
null
false
NA
false
2011-06-23
21,674,006
Yamada K
2011-06-06
PLoS One
www.ncbi.nlm.nih.gov/pubmed/21674006
Genome-wide association study of schizophrenia in Japanese population.
Schizophrenia
120 Japanese ancestry trios
1,083 East Asian ancestry cases, 1,092 East Asian ancestry controls
Affymetrix [97963]
0
schizophrenia
http://purl.obolibrary.org/obo/MONDO_0005090
GCST001090
Genome-wide genotyping array
null
false
NA
false
2010-12-09
20,972,440
Houlston RS
2010-10-24
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/20972440
Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.
Colorectal cancer
3,334 European ancestry cases, 4,628 European ancestry controls
14,851 European ancestry cases, 15,569 European ancestry controls
Illumina [up to 550000] (imputed)
5
colorectal cancer
http://purl.obolibrary.org/obo/MONDO_0005575
GCST000843
Genome-wide genotyping array
null
false
NA
false
2011-01-15
21,197,116
Ryu E
2010-12-17
Mol Vis
www.ncbi.nlm.nih.gov/pubmed/21197116
Genome-wide association analyses of genetic, phenotypic, and environmental risks in the age-related eye disease study.
Age-related macular degeneration
576 European ancestry individuals, 12 Black individuals, 2 individuals
444 European ancestry and Hispanic cases, 300 European ancestry and Hispanic controls
Illumina [103895]
0
age-related macular degeneration
http://www.ebi.ac.uk/efo/EFO_0001365
GCST000921
Genome-wide genotyping array
null
false
NA
false
2013-08-20
20,848,476
Haritunians T
2010-11-01
Inflamm Bowel Dis
www.ncbi.nlm.nih.gov/pubmed/20848476
Genetic predictors of medically refractory ulcerative colitis.
Ulcerative colitis
324 European ancestry medically refractory ulcerative colitis cases, 537 European ancestry non-medically refractory ulcerative colitis cases, 2,601 European ancestry controls
NA
Illumina [313720]
10
ulcerative colitis
http://www.ebi.ac.uk/efo/EFO_0000729
GCST000853
Genome-wide genotyping array
null
false
NA
false
2013-11-15
23,708,190
Hu Z
2013-05-26
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/23708190
A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations.
Congenital heart malformation
945 Han Chinese ancestry cases, 1,246 Han Chinese ancestry controls
2,160 Han Chinese ancestry cases, 3,866 Han Chinese ancestry controls
Illumina [708275]
2
congenital heart malformation
http://www.ebi.ac.uk/efo/EFO_0005269
GCST002036
Genome-wide genotyping array
null
false
NA
false
2011-07-07
21,665,994
Kutalik Z
2011-06-10
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/21665994
Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.
Alcohol consumption (transferrin glycosylation)
5,181 European ancestry individuals
2,284 European ancestry individauls
Affymetrix [390631] (imputed)
6
alcohol drinking
http://www.ebi.ac.uk/efo/EFO_0004329
GCST001103
Genome-wide genotyping array
null
false
NA
false
2012-10-19
21,102,463
Franke A
2010-11-21
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/21102463
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
Crohn's disease
6,333 European ancestry cases, 15,056 European ancestry controls
15,694 European ancestry cases, 14,026 European ancestry controls, 414 European ancestry trios
Affymetrix, Illumina [953241] (imputed)
71
Crohn's disease
http://www.ebi.ac.uk/efo/EFO_0000384
GCST000879
Genome-wide genotyping array
null
true
http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/GCST000001-GCST001000/GCST000879
false
2008-06-16
18,385,738
Hung RJ
2008-04-03
Nature
www.ncbi.nlm.nih.gov/pubmed/18385738
A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25.
Lung cancer
1,926 European ance other ancestry cases, 2,522 European and other ancestry controls
332 European ancestry cases, 462 European ancestry controls, 2,181 European and other ancestry cases, 4,290 European and other ancestry controls
Illumina [310023]
1
lung carcinoma
http://www.ebi.ac.uk/efo/EFO_0001071
GCST000170
Genome-wide genotyping array
null
false
NA
false
2013-05-14
21,618,603
Beaty TH
2011-05-26
Genet Epidemiol
www.ncbi.nlm.nih.gov/pubmed/21618603
Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate.
Orofacial clefts (maternal alcohol consumption interaction)
272 European ancestry trios, 259 Asian ancestry trios, 19 African ancestry or other ancestry trios
NA
Illumina [~ 498000]
2
orofacial cleft, alcohol consumption quality, cleft lip
http://purl.obolibrary.org/obo/MONDO_0000358, http://purl.obolibrary.org/obo/OBA_1000840, http://www.ebi.ac.uk/efo/EFO_0003959
GCST001082
Genome-wide genotyping array
null
false
NA
true
2008-07-01
18,391,951
Gudbjartsson DF
2008-04-06
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/18391951
Many sequence variants affecting diversity of adult human height.
Height
30,968 European ancestry individuals
8,541 European ancestry individuals
Affymetrix, Illumina [up to 304226]
52
body height
http://purl.obolibrary.org/obo/OBA_VT0001253
GCST000175
Genome-wide genotyping array
null
false
NA
false
2008-09-16
18,385,739
Thorgeirsson TE
2008-04-03
Nature
www.ncbi.nlm.nih.gov/pubmed/18385739
A variant associated with nicotine dependence, lung cancer and peripheral arterial disease.
Nicotine dependence
10,995 European ancestry individuals
4,848 European ancestry individuals
Illumina [306207]
1
nicotine dependence
http://www.ebi.ac.uk/efo/EFO_0003768
GCST000171
Genome-wide genotyping array
null
false
NA
false
2011-01-19
21,160,409
Petrovski S
2010-12-14
AIDS
www.ncbi.nlm.nih.gov/pubmed/21160409
Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population.
HIV-1 susceptibility
531 Sub-Saharan African ancestry cases, 848 Sub-Saharan African ancestry controls
NA
Illumina [~ 800000]
6
HIV-1 infection
http://www.ebi.ac.uk/efo/EFO_0000180
GCST000918
Genome-wide genotyping array
null
false
NA
false
2012-02-11
22,279,548
Sebastiani P
2012-01-18
PLoS One
www.ncbi.nlm.nih.gov/pubmed/22279548
Genetic signatures of exceptional longevity in humans.
Longevity
801 European ancestry long-living individuals, 914 European ancestry controls
292 European ancestry long-living individuals, 21 long-living individuals, 867 controls
Illumina [243980]
0
life span determination trait
http://purl.obolibrary.org/obo/OBA_VT0005372
GCST001379
Genome-wide genotyping array
null
false
NA
false
2009-09-28
17,903,307
Wilk JB
2007-09-19
BMC Med Genet
www.ncbi.nlm.nih.gov/pubmed/17903307
Framingham Heart Study genome-wide association: results for pulmonary function measures.
Mean forced vital capacity from 2 exams
Up to 1,222 individuals
NA
Affymetrix [70897]
2
vital capacity
http://www.ebi.ac.uk/efo/EFO_0004312
GCST000099
Genome-wide genotyping array
null
false
NA
false
2008-09-10
17,903,307
Wilk JB
2007-09-19
BMC Med Genet
www.ncbi.nlm.nih.gov/pubmed/17903307
Framingham Heart Study genome-wide association: results for pulmonary function measures.
Pulmonary function
Up to 1,222 individuals
NA
Affymetrix [70897]
10
pulmonary function measurement
http://www.ebi.ac.uk/efo/EFO_0003892
GCST000106
Genome-wide genotyping array
null
false
NA
false
2010-01-13
20,010,835
Hancock DB
2009-12-13
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/20010835
Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.
Pulmonary function
20,890 European ancestry individuals
16,178 European ancestry individuals
Affymetrix, Illumina [2534500] (imputed)
8
pulmonary function measurement
http://www.ebi.ac.uk/efo/EFO_0003892
GCST000542
Genome-wide genotyping array
null
false
NA
false
2008-06-16
18,369,459
Liu Y
2008-04-04
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/18369459
A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.
Psoriasis
218 European ancestry cases, 519 European ancestry controls
1,153 European ancestry cases, 1,217 European ancestry controls
Illumina [305983]
3
psoriasis
http://www.ebi.ac.uk/efo/EFO_0000676
GCST000173
Genome-wide genotyping array
null
false
NA
false
2011-01-03
21,037,115
Wan ES
2010-10-29
Am J Respir Cell Mol Biol
www.ncbi.nlm.nih.gov/pubmed/21037115
Genome-wide association analysis of body mass in chronic obstructive pulmonary disease.
Body mass in chronic obstructive pulmonary disease
2,950 European ancestry cases
502 European ancestry cases
Illumina [~ 550000]
1
body mass index
http://www.ebi.ac.uk/efo/EFO_0004340
GCST000850
Genome-wide genotyping array
null
false
NA
false
2009-06-01
19,448,189
Perlis RH
2009-05-15
Am J Psychiatry
www.ncbi.nlm.nih.gov/pubmed/19448189
A genomewide association study of response to lithium for prevention of recurrence in bipolar disorder.
Response to lithium treatment in bipolar disorder
458 lithium-treated cases, 719 non-lithium treated cases
359 European ancestry lithium-treated cases
Affymetrix [~ 1400000] (imputed)
0
response to lithium ion
http://purl.obolibrary.org/obo/GO_0010226
GCST000402
Genome-wide genotyping array
null
false
NA
false
2009-07-12
19,578,367
Shete S
2009-07-05
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19578367
Genome-wide association study identifies five susceptibility loci for glioma.
Glioma
1,878 European ancestry cases, 3,670 European ancestry controls
2,545 European ancestry cases, 2,953 European ancestry controls
Illumina [454576]
7
central nervous system cancer
http://www.ebi.ac.uk/efo/EFO_0000326
GCST000439
Genome-wide genotyping array
null
false
NA
false
2008-09-12
18,391,950
Lettre G
2008-04-06
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/18391950
Identification of ten loci associated with height highlights new biological pathways in human growth.
Height
15,821 European ancestry individuals
Up to 17,801 European ancestry individuals
Affymetrix, Illumina [2260683] (imputed)
18
body height
http://purl.obolibrary.org/obo/OBA_VT0001253
GCST000176
Genome-wide genotyping array
null
false
NA
false
2010-03-12
20,200,953
Karasik D
2010-01-29
J Bone Miner Res
www.ncbi.nlm.nih.gov/pubmed/20200953
Genome-wide pleiotropy of osteoporosis-related phenotypes: the Framingham Study.
Osteoporosis-related phenotypes
2,073 related female individuals
NA
Affymetrix [433510]
1
osteoporosis
http://www.ebi.ac.uk/efo/EFO_0003882
GCST000575
Genome-wide genotyping array
null
false
NA
false
2009-01-16
19,079,262
Styrkarsdottir U
2008-12-14
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19079262
New sequence variants associated with bone mineral density.
Bone mineral density (hip)
6,865 European ancestry individuals
8,510 European ancestry individuals
Illumina [305051]
8
bone tissue density
http://purl.obolibrary.org/obo/OBA_1000110
GCST000297
Genome-wide genotyping array
null
false
NA
false
2009-01-16
19,079,262
Styrkarsdottir U
2008-12-14
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19079262
New sequence variants associated with bone mineral density.
Bone mineral density (spine)
6,865 European ancestry individuals
8,510 European ancestry individuals
Illumina [305051]
7
bone tissue density
http://purl.obolibrary.org/obo/OBA_1000110
GCST000295
Genome-wide genotyping array
null
false
NA
false
2008-06-16
18,385,676
Amos CI
2008-04-03
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/18385676
Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1.
Lung cancer
1,154 European ancestry cases, 1,137 European ancestry controls
2,724 European ancestry cases, 3,694 European ancestry controls
Illumina [317498]
3
lung carcinoma
http://www.ebi.ac.uk/efo/EFO_0001071
GCST000172
Genome-wide genotyping array
null
false
NA
false
2009-07-01
19,557,161
Lindgren CM
2009-06-26
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/19557161
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.
Adiposity
38,580 European ancestry individuals
Up to 102,064 European ancestry individuals
Affymetrix, Illumina [2573738] (imputed)
4
obesity
http://www.ebi.ac.uk/efo/EFO_0001073
GCST000428
Genome-wide genotyping array
null
false
NA
false
2009-07-16
19,578,364
Bishop DT
2009-07-05
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19578364
Genome-wide association study identifies three loci associated with melanoma risk.
Melanoma
1,539 European ancestry cases, 3,917 European ancestry controls
2,312 European ancestry cases, 1,867 European ancestry controls
Illumina [~ 317000]
5
melanoma
http://www.ebi.ac.uk/efo/EFO_0000756
GCST000437
Genome-wide genotyping array
null
false
NA
false
2009-02-27
19,136,949
Carrasquillo MM
2009-01-11
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19136949
Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease.
Alzheimer's disease
844 European ancestry cases, 1,255 European ancestry controls
1,547 European ancestry cases, 1,209 European ancestry controls
Illumina [313504]
1
Alzheimer disease
http://purl.obolibrary.org/obo/MONDO_0004975
GCST000315
Genome-wide genotyping array
null
false
NA
false
2010-03-25
20,185,149
Athanasiu L
2010-02-23
J Psychiatr Res
www.ncbi.nlm.nih.gov/pubmed/20185149
Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort.
Schizophrenia
201 European ancestry cases, 305 European ancestry controls
2,663 European ancestry cases, 13,780 European ancestry controls
Affymetrix [572888]
3
schizophrenia
http://purl.obolibrary.org/obo/MONDO_0005090
GCST000607
Genome-wide genotyping array
null
false
NA
false
2011-04-29
21,459,883
Villard E
2011-04-01
Eur Heart J
www.ncbi.nlm.nih.gov/pubmed/21459883
A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.
Idiopathic dilated cardiomyopathy
1,179 European ancestry cases, 1,108 European ancestry controls
1,165 European ancestry cases, 1,302 European ancestry controls
Illumina [517382]
2
dilated cardiomyopathy
http://www.ebi.ac.uk/efo/EFO_0000407
GCST001023
Genome-wide genotyping array
null
false
NA
false
2009-07-01
19,557,197
Heard-Costa NL
2009-06-26
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/19557197
NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium.
Waist circumference
31,373 European ancestry individuals
38,641 individuals
Affymetrix, Illumina [up to 512349]
7
waist circumference
http://purl.obolibrary.org/obo/OBA_1001085
GCST000427
Genome-wide genotyping array
null
false
NA
false
2009-07-24
19,570,815
Estrada K
2009-07-01
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/19570815
A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation.
Height
10,074 European ancestry individuals
6,912 European ancestry individuals
Affymetrix, Illumina, Perlegen [2228850] (imputed)
5
body height
http://purl.obolibrary.org/obo/OBA_VT0001253
GCST000431
Genome-wide genotyping array
null
false
NA
false
2009-07-13
19,578,365
Falchi M
2009-07-05
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19578365
Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.
Cutaneous nevi
1,524 European ancestry twins
4,107 European ancestry individuals, 3,131 European ancestry cases, 4,276 European ancestry controls
Illumina [297108]
2
nevus
http://www.ebi.ac.uk/efo/EFO_0000625
GCST000438
Genome-wide genotyping array
null
false
NA
false
2009-08-21
19,625,618
Nakano M
2009-07-22
Proc Natl Acad Sci U S A
www.ncbi.nlm.nih.gov/pubmed/19625618
Three susceptible loci associated with primary open-angle glaucoma identified by genome-wide association study in a Japanese population.
Glaucoma (primary open-angle)
418 Japanese ancestry cases, 300 Japanese ancestry controls
409 Japanese ancestry cases, 448 Japanese ancestry controls
Affymetrix [331838]
0
open-angle glaucoma
http://www.ebi.ac.uk/efo/EFO_0004190
GCST000449
Genome-wide genotyping array
null
false
NA
false
2009-09-29
19,734,902
Harold D
2009-09-06
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19734902
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.
Alzheimer's disease
3,941 European ancestry cases, 7,848 European ancestry controls
2,023 European ancestry cases, 2,340 European ancestry controls
Illumina [529205]
3
Alzheimer disease
http://purl.obolibrary.org/obo/MONDO_0004975
GCST000479
Genome-wide genotyping array
null
false
NA
false
2011-03-28
21,348,951
Parsa A
2011-02-01
Clin Transl Sci
www.ncbi.nlm.nih.gov/pubmed/21348951
Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality.
Cardiac hypertrophy
851 Old Order Amish individuals
NA
Affymetrix [361034]
19
cardiac hypertrophy
http://www.ebi.ac.uk/efo/EFO_0002503
GCST000960
Genome-wide genotyping array
null
false
NA
false
2008-10-14
18,729,187
Galvan A
2008-08-26
Int J Cancer
www.ncbi.nlm.nih.gov/pubmed/18729187
A polygenic model with common variants may predict lung adenocarcinoma risk in humans.
Lung adenocarcinoma
482 European ancestry cases, 522 European ancestry controls
NA
Illumina [~ 318000]
0
lung adenocarcinoma
http://www.ebi.ac.uk/efo/EFO_0000571
GCST000223
Genome-wide genotyping array
null
false
NA
false
2013-03-27
23,359,319
Jin G
2013-01-01
Neoplasia
www.ncbi.nlm.nih.gov/pubmed/23359319
Genome-wide association study identifies loci at ATF7IP and KLK2 associated with percentage of circulating free PSA.
Prostate-specific antigen levels
3,192 European ancestry individuals
1,722 European ancestry individuals
Illumina [642584]
2
prostate specific antigen amount
http://purl.obolibrary.org/obo/OBA_2050200
GCST001799
Genome-wide genotyping array
null
false
NA
false
2009-01-14
19,074,352
Pollin TI
2008-12-17
Science
www.ncbi.nlm.nih.gov/pubmed/19074352
A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.
Triglycerides
809 Old Order Amish individuals
698 Old Order Amish individuals
Affymetrix [381934]
1
triglyceride measurement
http://www.ebi.ac.uk/efo/EFO_0004530
GCST000300
Genome-wide genotyping array
null
false
NA
false
2008-06-16
17,554,261
Parkes M
2007-06-06
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/17554261
Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.
Crohn's disease
1,748 cases, 2,938 controls
1,182 European ancestry cases, 2,024 European ancestry controls
Affymetrix [see WTCCC]
9
Crohn's disease
http://www.ebi.ac.uk/efo/EFO_0000384
GCST000039
Genome-wide genotyping array
null
false
NA
false
2008-11-11
18,840,781
Grant SF
2008-10-07
Diabetes
www.ncbi.nlm.nih.gov/pubmed/18840781
Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.
Type 1 diabetes
563 European ancestry cases, 1,146 European ancestry controls, 483 European ancestry trios
3,303 European ancestry cases, 4,673 European ancestry controls
Illumina [up to 1000000]
5
type 1 diabetes mellitus
http://purl.obolibrary.org/obo/MONDO_0005147
GCST000244
Genome-wide genotyping array
null
false
NA
false
2009-12-14
19,915,573
Asano K
2009-11-15
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19915573
A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.
Ulcerative colitis
376 Japanese ancestry cases, 934 Japanese ancestry controls
376 Japanese ancestry cases, 1,097 Japanese ancestry controls
Illumina [513923]
7
ulcerative colitis
http://www.ebi.ac.uk/efo/EFO_0000729
GCST000529
Genome-wide genotyping array
null
false
NA
false
2008-10-14
18,759,275
McArdle PF
2008-09-01
Arthritis Rheum
www.ncbi.nlm.nih.gov/pubmed/18759275
Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amish.
Uric acid levels
408 Old Order Amish female individuals, 460 Old Order Amish male individuals
Framingham Heart Study (Sample size NR)
Affymetrix [361034]
7
uric acid measurement
http://www.ebi.ac.uk/efo/EFO_0004761
GCST000227
Genome-wide genotyping array
null
false
NA
false
2008-10-14
18,463,975
Kibriya MG
2008-05-08
Breast Cancer Res Treat
www.ncbi.nlm.nih.gov/pubmed/18463975
A pilot genome-wide association study of early-onset breast cancer.
Breast cancer
26 European ancestry cases, 3 Hispanic cases, 1 African American case, 26 European ancestry controls, 3 Hispanic controls, 1 African American control
NA
Affymetrix [200220]
1
breast carcinoma
http://www.ebi.ac.uk/efo/EFO_0000305
GCST000187
Genome-wide genotyping array
null
false
NA
false
2009-04-02
19,304,780
Org E
2009-03-20
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/19304780
Genome-wide scan identifies CDH13 as a novel susceptibility locus contributing to blood pressure determination in two European populations.
Hypertension
364 European ancestry cases, 590 European ancestry controls
1,043 European ancestry cases, 1,769 European ancestry controls
Affymetrix [395912]
1
hypertension
http://www.ebi.ac.uk/efo/EFO_0000537
GCST000361
Genome-wide genotyping array
null
false
NA
false
2011-04-12
21,399,635
Mells GF
2011-03-13
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/21399635
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
Primary biliary cholangitis
1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al)
620 European ancestry cases, 2,514 European ancestry controls
Illumina [507467]
21
biliary liver cirrhosis
http://www.ebi.ac.uk/efo/EFO_0004267
GCST001010
Genome-wide genotyping array
null
false
NA
false
2010-09-10
20,668,430
Genovese G
2010-07-28
Kidney Int
www.ncbi.nlm.nih.gov/pubmed/20668430
A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9.
Glomerulosclerosis
56 African American cases, 61 European ancestry cases, 1,759 African American controls, 1,531 European ancestry controls
299 European ancestry cases
Illumina [up to 542539]
1
focal segmental glomerulosclerosis
http://www.ebi.ac.uk/efo/EFO_0004236
GCST000741
Genome-wide genotyping array
null
false
NA
false
2008-11-12
18,823,527
Abraham R
2008-09-29
BMC Med Genomics
www.ncbi.nlm.nih.gov/pubmed/18823527
A genome-wide association study for late-onset Alzheimer's disease using DNA pooling.
Alzheimer's disease
1,082 European ancestry cases, 1,239 European ancestry controls
1,400 controls
Illumina [561494]
2
Alzheimer disease
http://purl.obolibrary.org/obo/MONDO_0004975
GCST000237
Genome-wide genotyping array
null
false
NA
false
2008-06-16
17,463,249
Zeggini E
2007-04-26
Science
www.ncbi.nlm.nih.gov/pubmed/17463249
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.
Type 2 diabetes
1,924 European ancestry cases, 2,938 European ancestry controls
3,757 European ancestry cases, 5,346 European ancestry controls
Affymetrix [393453]
10
type 2 diabetes mellitus
http://purl.obolibrary.org/obo/MONDO_0005148
GCST000025
Genome-wide genotyping array
null
false
NA
false
2009-09-24
19,714,249
Liu YZ
2009-08-28
PLoS One
www.ncbi.nlm.nih.gov/pubmed/19714249
Powerful bivariate genome-wide association analyses suggest the SOX6 gene influencing both obesity and osteoporosis phenotypes in males.
Obesity and osteoporosis
499 European ancestry male individuals, 501 European ancestry female individuals
1,370 European ancestry male individuals and 1,985 European ancestry female individuals from 975 families
Affymetrix [379319]
2
obesity, osteoporosis
http://www.ebi.ac.uk/efo/EFO_0001073, http://www.ebi.ac.uk/efo/EFO_0003882
GCST000469
Genome-wide genotyping array
null
false
NA
false
2008-06-16
17,554,260
Todd JA
2007-06-06
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/17554260
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
Type 1 diabetes
2,000 European ancestry cases, 3,000 European ancestry controls
2,997 European ancestry trios, 4,000 European ancestry cases, 5,000 European ancestry controls
Affymetrix [NR]
12
type 1 diabetes mellitus
http://purl.obolibrary.org/obo/MONDO_0005147
GCST000038
Genome-wide genotyping array
null
false
NA
false
2008-06-16
17,553,421
Reiman EM
2007-06-07
Neuron
www.ncbi.nlm.nih.gov/pubmed/17553421
GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers.
Alzheimer's disease (late onset)
446 cases, 290 controls
415 cases, 260 controls
Affymetrix [312316]
1
Alzheimer disease
http://purl.obolibrary.org/obo/MONDO_0004975
GCST000046
Genome-wide genotyping array
null
false
NA
false
2013-04-18
23,337,944
Haghighi A
2013-01-22
Mol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/23337944
Opioid receptor mu 1 gene, fat intake and obesity in adolescence.
Fat intake
598 European ancestry adolescents
490 European ancestry young adult individuals
Illumina [530011]
0
energy intake
http://www.ebi.ac.uk/efo/EFO_0003939
GCST001829
Genome-wide genotyping array
null
false
NA
false
2009-12-28
19,950,302
Zhou X
2009-11-30
Arthritis Rheum
www.ncbi.nlm.nih.gov/pubmed/19950302
HLA-DPB1 and DPB2 are genetic loci for systemic sclerosis: a genome-wide association study in Koreans with replication in North Americans.
Systemic sclerosis
133 Korean ancestry cases, 557 Korean ancestry controls
1,107 European ancestry cases, 2,747 European ancestry controls
Affymetrix [440734]
0
systemic scleroderma
http://www.ebi.ac.uk/efo/EFO_0000717
GCST000535
Genome-wide genotyping array
null
false
NA
false
2012-01-20
22,210,626
Mead S
2011-12-30
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/22210626
Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.
Prion diseases
1,281 European ancestry cases, 6,015 European ancestry controls, 290 Papua New Guinean ancestry cases, 286 Papua New Guinean ancestry controls
NA
Illumina [NR] (imputed)
11
prion disease
http://www.ebi.ac.uk/efo/EFO_0004720
GCST001366
Genome-wide genotyping array
null
false
NA
false
2009-12-29
20,031,579
Tarasov KV
2009-04-01
Circ Cardiovasc Genet
www.ncbi.nlm.nih.gov/pubmed/20031579
COL4A1 is associated with arterial stiffness by genome-wide association scan.
Arterial stiffness
4,221 Sardinian individuals
1,828 Sardinian individuals, 813 Old Order Amish individuals
Affymetrix [362129] (imputed)
1
arterial stiffness measurement
http://www.ebi.ac.uk/efo/EFO_0004517
GCST000370
Genome-wide genotyping array
null
false
NA
false
2009-04-13
19,340,012
Nan H
2009-04-02
J Invest Dermatol
www.ncbi.nlm.nih.gov/pubmed/19340012
Genome-wide association study of tanning phenotype in a population of European ancestry.
Tanning
2,287 European ancestry female individuals
870 European ancestry female individuals
Illumina [528173]
10
suntan
http://www.ebi.ac.uk/efo/EFO_0004279
GCST000371
Genome-wide genotyping array
null
false
NA
false
2013-09-21
23,678,272
Cheong KA
2013-05-02
J Korean Med Sci
www.ncbi.nlm.nih.gov/pubmed/23678272
Three new single nucleotide polymorphisms identified by a genome-wide association study in Korean patients with vitiligo.
Vitiligo (non-segmental)
20 Korean ancestry cases, 192 Korean ancestry controls
184 Korean ancestry cases, 192 Korean ancestry controls
Affymetrix [500568]
1
Vitiligo
http://www.ebi.ac.uk/efo/EFO_0004208
GCST001992
Genome-wide genotyping array
null
false
NA
false
2009-04-03
18,711,367
Yasuda K
2008-08-17
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/18711367
Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus.
Type 2 diabetes
187 Japanese ancestry cases, 1,504 Japanese ancestry controls
6,552 East Asian ancestry cases, 6,621 East Asian ancestry controls, 2,830 European ancestry cases, 3,740 European ancestry controls
NR [82343]
1
type 2 diabetes mellitus
http://purl.obolibrary.org/obo/MONDO_0005148
GCST000219
Genome-wide genotyping array
null
false
NA
false
2009-05-07
19,401,414
Takeuchi F
2009-04-29
Diabetes
www.ncbi.nlm.nih.gov/pubmed/19401414
Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.
Type 2 diabetes
519 Japanese ancestry cases, 503 Japanese ancestry controls
5,110 Japanese ancestry cases, 6,867 Japanese ancestry controls
Illumina [482625]
7
type 2 diabetes mellitus
http://purl.obolibrary.org/obo/MONDO_0005148
GCST000383
Genome-wide genotyping array
null
false
NA
false
2010-03-24
20,228,798
Franke A
2010-03-14
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/20228798
Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).
Ulcerative colitis
1,043 European ancestry cases, 1,703 European ancestry controls
2,539 European ancestry cases, 5,428 European ancestry controls
Affymetrix [1897764] (imputed)
6
ulcerative colitis
http://www.ebi.ac.uk/efo/EFO_0000729
GCST000623
Genome-wide genotyping array
null
false
NA
false
2008-06-16
17,632,545
Hakonarson H
2007-07-15
Nature
www.ncbi.nlm.nih.gov/pubmed/17632545
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
Type 1 diabetes
467 European ancestry trios, 561 European ancestry cases, 1,143 European ancestry controls
390 European ancestry trios, 1,333 European ancestry cases from 549 families
Illumina [543071]
4
type 1 diabetes mellitus
http://purl.obolibrary.org/obo/MONDO_0005147
GCST000054
Genome-wide genotyping array
null
false
NA
false
2008-06-16
17,632,509
Buch S
2007-07-15
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/17632509
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
Gallstone disease
280 European ancestry cases, 360 European ancestry controls
1,833 European ancestry cases, 1,035 European ancestry controls, 167 Hispanic cases, 167 Hispanic controls
Affymetrix [382492]
1
gallstones
http://www.ebi.ac.uk/efo/EFO_0004210
GCST000055
Genome-wide genotyping array
null
false
NA
false
2008-09-15
17,641,165
Fellay J
2007-07-19
Science
www.ncbi.nlm.nih.gov/pubmed/17641165
A whole-genome association study of major determinants for host control of HIV-1.
HIV-1 viral setpoint
486 European ancestry cases
140 European ancestry cases
Illumina [535101]
0
response to virus
http://purl.obolibrary.org/obo/GO_0009615
GCST000059
Genome-wide genotyping array
null
false
NA
false
2010-04-14
20,348,956
Kiemeney LA
2010-03-28
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/20348956
A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.
Urinary bladder cancer
1,889 European ancestry cases, 39,310 European ancestry controls
2,850 European ancestry cases, 6,239 European ancestry controls
Illumina [304703]
3
urinary bladder carcinoma
http://purl.obolibrary.org/obo/MONDO_0004986
GCST000639
Genome-wide genotyping array
null
false
NA
false
2008-06-16
17,637,780
Winkelmann J
2007-07-18
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/17637780
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.
Restless legs syndrome
401 European ancestry cases, 1,644 European ancestry controls
906 European ancestry cases, 891 European ancestry controls, 255 French Canadian cases, 287 French Canadian controls
Affymetrix [236758]
3
restless legs syndrome
http://www.ebi.ac.uk/efo/EFO_0004270
GCST000056
Genome-wide genotyping array
null
false
NA
false
2012-02-14
22,232,737
Shu XO
2012-01-09
Cancer Res
www.ncbi.nlm.nih.gov/pubmed/22232737
Novel genetic markers of breast cancer survival identified by a genome-wide association study.
Breast cancer (survival)
1,950 Chinese ancestry cases
4,160 Chinese ancestry cases
Affymetrix [613031]
3
event free survival time, survival time, breast carcinoma
http://www.ebi.ac.uk/efo/EFO_0000482, http://www.ebi.ac.uk/efo/EFO_0000714, http://www.ebi.ac.uk/efo/EFO_0000305
GCST001373
Genome-wide genotyping array
null
false
NA
false
2010-03-30
20,212,171
Buil A
2010-03-08
Blood
www.ncbi.nlm.nih.gov/pubmed/20212171
C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S-independent mechanism: results from genome-wide association and gene expression analyses followed by case-control studies.
C4b binding protein levels
352 European ancestry related individuals
NA
Illumina [283437]
1
C4BP measurement
http://www.ebi.ac.uk/efo/EFO_0004572
GCST000621
Genome-wide genotyping array
null
false
NA
false
2010-04-13
20,360,844
Arking DE
2010-03-25
PLoS One
www.ncbi.nlm.nih.gov/pubmed/20360844
Genome-wide association study identifies GPC5 as a novel genetic locus protective against sudden cardiac arrest.
Sudden cardiac arrest
424 European ancestry cases, 226 European ancestry controls
521 cases and 19,090 controls of Black and European ancestry
Affymetrix [1966233] (imputed)
0
sudden cardiac arrest
http://www.ebi.ac.uk/efo/EFO_0004278
GCST000638
Genome-wide genotyping array
null
false
NA
false
2010-05-05
20,383,146
Kottgen A
2010-04-11
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/20383146
New loci associated with kidney function and chronic kidney disease.
Chronic kidney disease
Up to 67,093 European ancestry individuals
Up to 22,982 European ancestry individuals
Affymetrix, Illumina [~ 2500000] (imputed)
28
cystatin C measurement, chronic kidney disease, serum creatinine amount
http://www.ebi.ac.uk/efo/EFO_0004617, http://www.ebi.ac.uk/efo/EFO_0003884, http://purl.obolibrary.org/obo/OBA_2050096
GCST000649
Genome-wide genotyping array
null
false
NA
false
2011-07-13
21,572,416
Kato N
2011-05-15
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/21572416
Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
Blood pressure
19,608 East Asian ancestry individuals
30,765 East Asian ancestry individuals
Affymetrix, Illumina [1700000] (imputed)
9
blood pressure trait
http://purl.obolibrary.org/obo/OBA_VT0000183
GCST001072
Genome-wide genotyping array
null
false
NA
false
2011-07-13
21,572,416
Kato N
2011-05-15
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/21572416
Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
Blood pressure
19,608 East Asian ancestry individuals
30,765 East Asian ancestry individuals
Affymetrix, Illumina [1700000] (imputed)
8
blood pressure trait
http://purl.obolibrary.org/obo/OBA_VT0000183
GCST001074
Genome-wide genotyping array
null
false
NA
false
2010-11-23
20,923,822
Niu N
2010-10-05
Genome Res
www.ncbi.nlm.nih.gov/pubmed/20923822
Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines.
Radiation response
93 African American human lymphoblastoid cell lines, 89 European ancestry human lymphoblastoid cell lines, 95 Han Chinese ancestry human lymphoblastoid cell lines
NA
Affymetrix, Illumina [1348798]
12
response to radiation
http://purl.obolibrary.org/obo/GO_0009314
GCST000823
Genome-wide genotyping array
null
false
NA
false
2010-10-14
20,871,662
Fu YP
2010-09-02
J Ophthalmol
www.ncbi.nlm.nih.gov/pubmed/20871662
Identification of Diabetic Retinopathy Genes through a Genome-Wide Association Study among Mexican-Americans from Starr County, Texas.
Diabetic retinopathy
103 Mexican American cases, 183 Mexican American controls
NA
Affymetrix [421010] (imputed)
0
diabetic retinopathy
http://www.ebi.ac.uk/efo/EFO_0003770
GCST000786
Genome-wide genotyping array
null
false
NA
false
2009-03-31
19,300,482
Pillai SG
2009-03-20
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/19300482
A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.
Chronic obstructive pulmonary disease
823 cases, 810 controls
1,891 European ancestry individuals from 606 families, 389 European ancestry cases, 472 European ancestry controls, 949 individuals from 127 families
Illumina [493609]
2
chronic obstructive pulmonary disease
http://www.ebi.ac.uk/efo/EFO_0000341
GCST000359
Genome-wide genotyping array
null
false
NA
false
2011-05-24
21,490,949
Sim X
2011-04-07
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21490949
Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.
Type 2 diabetes
2,010 Chinese ancestry cases, 1,945 Chinese ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 977 Asian Indian ancestry cases, 1,169 Asian Indian ancestry controls
NA
Illumina [~ 2000000] (imputed)
17
type 2 diabetes mellitus
http://purl.obolibrary.org/obo/MONDO_0005148
GCST001033
Genome-wide genotyping array
null
false
NA
false
2011-01-14
20,801,717
Shatunov A
2010-10-01
Lancet Neurol
www.ncbi.nlm.nih.gov/pubmed/20801717
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study.
Amyotrophic lateral sclerosis
4,857 European ancestry cases, 8,987 European ancestry controls
NA
Illumina [227475]
4
amyotrophic lateral sclerosis
http://purl.obolibrary.org/obo/MONDO_0004976
GCST000820
Genome-wide genotyping array
null
false
NA
false
2015-05-20
21,221,126
Shen Y
2011-01-11
Pharmacogenomics J
www.ncbi.nlm.nih.gov/pubmed/21221126
Genome-wide association study of serious blistering skin rash caused by drugs.
Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)
up to 72 European ancestry cases, up to 4,251 European ancestry controls
NA
Illumina [up to 1000000]
4
Stevens-Johnson syndrome, toxic epidermal necrolysis
http://www.ebi.ac.uk/efo/EFO_0004276, http://www.ebi.ac.uk/efo/EFO_0004775
GCST000942
Genome-wide genotyping array
null
false
NA
false
2011-05-26
21,544,081
Dorajoo R
2011-04-19
Int J Obes (Lond)
www.ncbi.nlm.nih.gov/pubmed/21544081
Replication of 13 obesity loci among Singaporean Chinese, Malay and Asian-Indian populations.
Obesity
5,429 Chinese ancestry individuals, 2,431 Malay ancestry individuals, 2,531 Asian Indian ancestry individuals
NA
Illumina [1283957] (imputed)
1
obesity
http://www.ebi.ac.uk/efo/EFO_0001073
GCST001046
Genome-wide genotyping array
null
false
NA
false
2009-04-23
19,369,658
Ikram MA
2009-04-15
N Engl J Med
www.ncbi.nlm.nih.gov/pubmed/19369658
Genomewide association studies of stroke.
Stroke
1,164 European ancestry ischemic cases, 380 European ancestry cases, 18,058 European ancestry controls
259 African American ancestry ischemic cases, 41 African American ancestry cases, 2,704 African American ancestry controls, 652 European ancestry ischemic cases, 3,613 European ancestry controls
Affymetrix, Illumina [2194468] (imputed)
4
stroke
http://www.ebi.ac.uk/efo/EFO_0000712
GCST000379
Genome-wide genotyping array
null
false
NA
false
2015-05-23
21,300,955
Dehghan A
2011-02-07
Circulation
www.ncbi.nlm.nih.gov/pubmed/21300955
Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
C-reactive protein levels
63,678 European ancestry individuals 1,792 Erasmus Rucphen individuals, 715 Orcadian individuals
16,540 European ancestry individuals
Affymetrix, Illumina [~ 2500000] (imputed)
20
C-reactive protein measurement
http://www.ebi.ac.uk/efo/EFO_0004458
GCST000965
Genome-wide genotyping array
null
false
NA
false
2009-09-09
19,684,573
Ge D
2009-08-16
Nature
www.ncbi.nlm.nih.gov/pubmed/19684573
Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance.
Response to hepatitis C treatment
871 European ancestry cases, 191 African American cases, 75 Hispanic cases
NA
Illumina [565759]
3
chronic hepatitis C virus infection
http://www.ebi.ac.uk/efo/EFO_0004220
GCST000465
Genome-wide genotyping array
null
false
NA
false
2010-05-03
20,363,506
Meguro A
2010-04-02
Ophthalmology
www.ncbi.nlm.nih.gov/pubmed/20363506
Genome-wide association study of normal tension glaucoma: common variants in SRBD1 and ELOVL5 contribute to disease susceptibility.
Glaucoma
305 Japanese ancestry cases, 355 Japanese ancestry controls
NA
Affymetrix [325947]
2
glaucoma
http://purl.obolibrary.org/obo/MONDO_0005041
GCST000645
Genome-wide genotyping array
null
false
NA
false
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.
Cholesterol, total
21,848 European ancestry individuals, 714 Orcadian individuals
NA
Affymetrix, Illumina [up to 600000]
15
total cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004574
GCST000285
Genome-wide genotyping array
null
false
NA
false
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.
LDL cholesterol
17,083 European ancestry individuals, 714 Orcadian individuals
NA
Affymetrix, Illumina [up to 600000]
12
low density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004611
GCST000282
Genome-wide genotyping array
null
false
NA
false
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.
Triglycerides
17,100 European ancestry individuals, 715 Orcadian individuals
NA
Affymetrix, Illumina [up to 600000]
8
triglyceride measurement
http://www.ebi.ac.uk/efo/EFO_0004530
GCST000289
Genome-wide genotyping array
null
false
NA
false