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2 classes
2013-08-28
23,599,027
Demerath EW
2013-04-17
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/23599027
Genome-wide association study of age at menarche in African-American women.
Menarche (age at onset)
18,089 African American individuals
2,850 African American individuals, 87,802 European ancestry inidividuals
Affymetrix, Illumina [NR] (imputed)
15
age at menarche
http://www.ebi.ac.uk/efo/EFO_0004703
GCST001973
Genome-wide genotyping array
null
false
NA
false
2012-04-25
22,443,383
Oudot-Mellakh T
2012-01-16
Br J Haematol
www.ncbi.nlm.nih.gov/pubmed/22443383
Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project.
Hemostatic factors and hematological phenotypes
951 European ancestry individuals
NA
Illumina [472123]
9
hematological measurement
http://www.ebi.ac.uk/efo/EFO_0004503
GCST001378
Genome-wide genotyping array
null
false
NA
false
2012-04-18
22,437,316
Sarig O
2012-03-22
J Invest Dermatol
www.ncbi.nlm.nih.gov/pubmed/22437316
Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgaris.
Pemphigus vulgaris
100 Jewish cases, 397 Jewish controls
59 Jewish cases, 285 Jewish controls, 124 European ancestry cases, 275 European anestry controls, 126 North African ancestry controls, 246 North African ancestry controls
Illumina [293635]
0
pemphigus vulgaris
http://www.ebi.ac.uk/efo/EFO_0004719
GCST001452
Genome-wide genotyping array
null
false
NA
false
2013-07-05
23,535,911
Kitamoto T
2013-03-28
Hum Genet
www.ncbi.nlm.nih.gov/pubmed/23535911
Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan.
Pediatric non-alcoholic fatty liver disease activity score
392 Japanese ancestry cases, 934 Japanese ancestry controls
172 Japanese ancestry cases, 1,012 Japanese ancestry controls
Illumina [261540]
4
non-alcoholic fatty liver disease, cirrhosis of liver
http://www.ebi.ac.uk/efo/EFO_0003095, http://www.ebi.ac.uk/efo/EFO_0001422
GCST001928
Genome-wide genotyping array
null
false
NA
false
2012-11-04
22,951,595
Hwang JY
2012-09-06
J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/22951595
Genome-wide association study identifies GYS2 as a novel genetic factor for polycystic ovary syndrome through obesity-related condition.
Polycystic ovary syndrome
774 Korean ancestry cases, 967 Korean ancestry controls
482 Korean ancestry children, 468 Korean ancestry pregnant female individuals, 1,242 Korean ancestry female controls
Illumina [~ 3091653] (imputed)
0
polycystic ovary syndrome
http://www.ebi.ac.uk/efo/EFO_0000660
GCST001669
Genome-wide genotyping array
null
false
NA
false
2013-09-18
23,593,239
van der Loos MJ
2013-04-04
PLoS One
www.ncbi.nlm.nih.gov/pubmed/23593239
The molecular genetic architecture of self-employment.
Self-employment
7,734 European ancestry cases, 42,893 European ancestry controls
737 cases, 2,534 controls
Affymetrix, Illumina [~ 2400000] (imputed)
2
employment status
http://www.ebi.ac.uk/efo/EFO_0005241
GCST001952
Genome-wide genotyping array
null
false
NA
false
2013-06-26
23,535,033
Sherva R
2013-03-24
Alzheimers Dement
www.ncbi.nlm.nih.gov/pubmed/23535033
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
Alzheimer's disease (cognitive decline)
303 European ancestry cases
null
Illumina [NR] (imputed)
44
Alzheimer disease
http://purl.obolibrary.org/obo/MONDO_0004975
GCST001915
Genome-wide genotyping array
null
false
NA
false
2013-01-25
23,144,319
Lee Y
2012-11-08
Carcinogenesis
www.ncbi.nlm.nih.gov/pubmed/23144319
Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.
Non-small cell lung cancer
348 Korean ancestry cases
NA
Affymetrix [271817]
13
non-small cell lung carcinoma
http://www.ebi.ac.uk/efo/EFO_0003060
GCST001734
Genome-wide genotyping array
null
false
NA
false
2012-03-30
22,377,092
Wang KS
2012-02-27
Drug Alcohol Depend
www.ncbi.nlm.nih.gov/pubmed/22377092
ANAPC1 and SLCO3A1 are associated with nicotine dependence: meta-analysis of genome-wide association studies.
Nicotine dependence
1,079 European ancestry cases, 1,341 European ancestry controls
1,419 European ancestry cases, 1,885 European ancestry controls from 778 nuclear families
Illumina [818866]
0
nicotine dependence
http://www.ebi.ac.uk/efo/EFO_0003768
GCST001427
Genome-wide genotyping array
null
false
NA
false
2013-04-09
23,251,661
Comuzzie AG
2012-12-04
PLoS One
www.ncbi.nlm.nih.gov/pubmed/23251661
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
Obesity-related traits
815 Hispanic children from 263 families
NA
Illumina [899892]
949
hormone measurement, antioxidant measurement, cortisol secretion efficacy, body mass index, IGFBP-3 measurement, sleep quality, gestational age, energy expenditure, metabolic rate measurement, urinary metabolite measurement, vitamin B12 measurement, energy intake, blood insulin amount, ICAM-1 measurement, folic acid le...
http://www.ebi.ac.uk/efo/EFO_0004730, http://www.ebi.ac.uk/efo/EFO_0005119, http://purl.obolibrary.org/obo/OBA_2045286, http://www.ebi.ac.uk/efo/EFO_0004340, http://www.ebi.ac.uk/efo/EFO_0004626, http://purl.obolibrary.org/obo/OBA_2040170, http://www.ebi.ac.uk/efo/EFO_0005112, http://www.ebi.ac.uk/efo/EFO_0005109, http...
GCST001762
Genome-wide genotyping array
null
false
NA
false
2011-06-14
21,621,269
Aragam N
2011-05-26
J Affect Disord
www.ncbi.nlm.nih.gov/pubmed/21621269
Genome-wide association analysis of gender differences in major depressive disorder in the Netherlands NESDA and NTR population-based samples.
Major depressive disorder
1,726 cases, 1,630 controls
NA
Perlegen [433556]
5
major depressive disorder
http://purl.obolibrary.org/obo/MONDO_0002009
GCST001083
Genome-wide genotyping array
null
false
NA
false
2013-01-18
23,139,255
Butler AM
2012-11-08
Circ Cardiovasc Genet
www.ncbi.nlm.nih.gov/pubmed/23139255
Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts.
PR interval
13,415 African American individuals
NA
Affymetrix, Illumina [2845108] (imputed)
8
PR interval
http://www.ebi.ac.uk/efo/EFO_0004462
GCST001735
Genome-wide genotyping array
null
false
NA
false
2013-01-16
23,133,572
Rye MS
2012-10-25
PLoS One
www.ncbi.nlm.nih.gov/pubmed/23133572
Genome-wide association study to identify the genetic determinants of otitis media susceptibility in childhood.
Otitis media (chronic/recurrent)
416 cases and 1,075 controls of European and unknown ancestry
1,941 European and unknown ancestry individuals, 142 individuals from 645 families
Illumina [2509905] (imputed)
0
Otitis media
http://www.ebi.ac.uk/efo/EFO_0004992
GCST001717
Genome-wide genotyping array
null
false
NA
false
2012-04-24
22,455,414
Tekola Ayele F
2012-03-29
N Engl J Med
www.ncbi.nlm.nih.gov/pubmed/22455414
HLA class II locus and susceptibility to podoconiosis.
Podoconiosis
194 African ancestry cases, 203 African ancestry controls
202 African ancestry family trios
Illumina [551840]
0
podoconiosis
http://www.ebi.ac.uk/efo/EFO_0004712
GCST001464
Genome-wide genotyping array
null
false
NA
false
2013-02-08
23,180,272
Park BL
2012-11-21
Hum Genet
www.ncbi.nlm.nih.gov/pubmed/23180272
Genome-wide association study of aspirin-exacerbated respiratory disease in a Korean population.
Aspirin exacerbated respiratory disease in asthmatics
117 Korean ancestry cases, 685 Korean ancestry controls
142 Korean ancestry cases, 996 Korean ancestry controls
Illumina [430486]
1
Aspirin-induced asthma
http://purl.obolibrary.org/obo/HP_0012042
GCST001747
Genome-wide genotyping array
null
false
NA
false
2011-06-14
21,612,516
Malovini A
2011-05-25
Rejuvenation Res
www.ncbi.nlm.nih.gov/pubmed/21612516
Association study on long-living individuals from Southern Italy identifies rs10491334 in the CAMKIV gene that regulates survival proteins.
Longevity
410 European ancestry long-living individuals, 553 European ancestry young individuals
116 European ancestry long-living individuals, 160 European ancestry young individuals
Illumina [298715]
1
life span determination trait
http://purl.obolibrary.org/obo/OBA_VT0005372
GCST001081
Genome-wide genotyping array
null
false
NA
false
2012-11-05
22,960,237
Han Y
2012-08-31
Bone
www.ncbi.nlm.nih.gov/pubmed/22960237
Bivariate genome-wide association study suggests fatty acid desaturase genes and cadherin DCHS2 for variation of both compressive strength index and appendicular lean mass in males.
Comprehensive strength and appendicular lean mass
825 Chinese ancestry female individuals, 802 Chinese ancestry male individuals
1,059 European ancestry male individuals, 2,227 European ancestry female individuals
Affymetrix [701525]
2
comprehensive strength index, muscle measurement
http://www.ebi.ac.uk/efo/EFO_0004979, http://www.ebi.ac.uk/efo/EFO_0004515
GCST001656
Genome-wide genotyping array
null
false
NA
false
2013-09-27
23,666,238
Kou I
2013-05-12
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/23666238
Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis.
Scoliosis
1,033 Japanese ancestry cases, 1,473 Japanese ancestry controls
1,529 East Asian ancestry cases, 25,675 East Asian ancestry controls, 447 European ancestry cases, 737 European ancestry controls
Illumina [465762]
2
scoliosis
http://www.ebi.ac.uk/efo/EFO_0004273
GCST002020
Genome-wide genotyping array
null
false
NA
false
2011-09-17
21,826,061
Davies G
2011-08-09
Mol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/21826061
Genome-wide association studies establish that human intelligence is highly heritable and polygenic.
Intelligence
3,511 European ancestry individuals
670 European ancestry individuals
Illumina [549692]
0
intelligence
http://www.ebi.ac.uk/efo/EFO_0004337
GCST001195
Genome-wide genotyping array
null
false
NA
false
2011-06-14
21,625,490
Andiappan AK
2011-05-20
PLoS One
www.ncbi.nlm.nih.gov/pubmed/21625490
Genome-wide association study for atopy and allergic rhinitis in a Singapore Chinese population.
Atopy
515 Chinese ancestry cases, 486 Chinese ancestry controls
2,323 Chinese ancestry cases, 511 Chinese ancestry controls
Illumina [460183]
0
atopy
http://www.ebi.ac.uk/efo/EFO_0002686
GCST001075
Genome-wide genotyping array
null
false
NA
false
2011-06-08
21,611,967
Gupta M
2011-05-24
J Bone Miner Res
www.ncbi.nlm.nih.gov/pubmed/21611967
Identification of homogeneous genetic architecture of multiple genetically correlated traits by block clustering of genome-wide associations.
Fracture-related traits
2,038 indivduals
NA
Affymetrix [433510]
0
bone fracture related measurement
http://www.ebi.ac.uk/efo/EFO_0004516
GCST001080
Genome-wide genotyping array
null
false
NA
false
2011-06-16
21,626,137
Slavin TP
2011-05-28
Hum Genet
www.ncbi.nlm.nih.gov/pubmed/21626137
Two-marker association tests yield new disease associations for coronary artery disease and hypertension.
Hypertension (SNP x SNP interaction)
~2,000 European ancestry cases, ~3,000 European ancestry controls
NA
Affymetrix [405022]
9
hypertension
http://www.ebi.ac.uk/efo/EFO_0000537
GCST001085
Genome-wide genotyping array
null
false
NA
false
2011-06-16
21,626,137
Slavin TP
2011-05-28
Hum Genet
www.ncbi.nlm.nih.gov/pubmed/21626137
Two-marker association tests yield new disease associations for coronary artery disease and hypertension.
Coronary heart disease (SNP X SNP interaction)
~2,000 European ancestry cases, ~3,000 European ancestry controls
NA
Affymetrix [407576]
5
coronary artery disease
http://www.ebi.ac.uk/efo/EFO_0001645
GCST001084
Genome-wide genotyping array
null
false
NA
false
2011-06-07
21,602,797
Wright FA
2011-05-22
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/21602797
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.
Cystic fibrosis severity
2,317 European ancestry cases, 177 cases
898 European ancestry sibling pair cases, 75 sibling pair cases
Illumina [~ 2609000] (imputed)
6
cystic fibrosis
http://purl.obolibrary.org/obo/MONDO_0009061
GCST001077
Genome-wide genotyping array
null
false
NA
false
2011-06-16
21,642,993
Wu C
2011-06-05
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/21642993
Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.
Esophageal cancer
2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls
3,986 Han Chinese ancestry cases, 4,157 Han Chinese ancestry controls
Affymetrix [666141]
11
esophageal carcinoma
http://www.ebi.ac.uk/efo/EFO_0002916
GCST001089
Genome-wide genotyping array
null
false
NA
false
2011-06-23
21,666,692
Chasman DI
2011-06-12
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/21666692
Genome-wide association study reveals three susceptibility loci for common migraine in the general population.
Migraine
5,122 European ancestry cases, 18,108 European ancestry controls
3,831 European ancestry cases, 13,889 European ancestry controls
Affymetrix, Illumina [2608509] (imputed)
3
migraine disorder
http://purl.obolibrary.org/obo/MONDO_0005277
GCST001105
Genome-wide genotyping array
null
false
NA
false
2011-06-18
21,665,988
Horne BD
2011-06-10
Circ Cardiovasc Genet
www.ncbi.nlm.nih.gov/pubmed/21665988
Genome-wide significance and replication of the chromosome 12p11.22 locus near the PTHLH gene for peripartum cardiomyopathy.
Peripartum cardiomyopathy
36 European ancestry female cases, 703 European ancestry female controls, 5 female cases
59 European ancestry female cases, 303 European ancestry female controls
Illumina [541327]
0
peripartum cardiomyopathy
http://www.ebi.ac.uk/efo/EFO_0002628
GCST001098
Genome-wide genotyping array
null
false
NA
false
2013-09-20
23,644,492
Wu C
2013-05-05
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/23644492
Genome-wide association study identifies common variants in SLC39A6 associated with length of survival in esophageal squamous-cell carcinoma.
Esophageal squamous cell cancer (length of survival)
1,331 Chinese ancestry cases
1,062 Chinese ancestry individuals
Affymetrix [665999]
1
survival time, squamous cell carcinoma, esophageal carcinoma
http://www.ebi.ac.uk/efo/EFO_0000714, http://www.ebi.ac.uk/efo/EFO_0000707, http://www.ebi.ac.uk/efo/EFO_0002916
GCST002010
Genome-wide genotyping array
null
false
NA
false
2011-06-17
21,640,322
Shi Y
2011-06-02
Am J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/21640322
Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population.
Myopia (pathological)
419 Han Chinese ancestry high myopia cases, 669 Han Chinese ancestry controls
2,803 East Asian ancestry high myopia cases, 5,642 East Asian ancestry controls
Illumina [493947]
1
pathological myopia
http://www.ebi.ac.uk/efo/EFO_0004207
GCST001088
Genome-wide genotyping array
null
false
NA
false
2011-04-13
21,428,769
McCormack M
2011-03-24
N Engl J Med
www.ncbi.nlm.nih.gov/pubmed/21428769
HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans.
Adverse response to carbamazepine
65 European ancestry cases, 3,987 European ancestry controls
80 European ancestry cases, 257 European ancestry controls
Illumina [~ 1200000] (imputed)
1
response to anticonvulsant
http://purl.obolibrary.org/obo/GO_0036277
GCST001014
Genome-wide genotyping array
null
false
NA
false
2012-08-10
22,744,181
Hai R
2012-06-29
Sci China Life Sci
www.ncbi.nlm.nih.gov/pubmed/22744181
Bivariate genome-wide association study suggests that the DARC gene influences lean body mass and age at menarche.
Lean body mass and age at menarche (combined)
801 Han Chinese ancestry female individuals
1,692 European ancestry female individuals
Affymetrix [909622]
1
body fat distribution, age at menarche
http://www.ebi.ac.uk/efo/EFO_0004341, http://www.ebi.ac.uk/efo/EFO_0004703
GCST001584
Genome-wide genotyping array
null
false
NA
false
2012-04-06
22,367,438
Tao S
2012-02-26
Hum Genet
www.ncbi.nlm.nih.gov/pubmed/22367438
Genome-wide two-locus epistasis scans in prostate cancer using two European populations.
Prostate cancer (SNP x SNP interaction)
1,176 cases, 1,101 controls
1,964 European ancestry cases, 3,172 European ancestry controls
Illumina [509916]
0
prostate carcinoma
http://www.ebi.ac.uk/efo/EFO_0001663
GCST001426
Genome-wide genotyping array
null
false
NA
false
2010-03-17
20,173,748
Cho MH
2010-02-21
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/20173748
Variants in FAM13A are associated with chronic obstructive pulmonary disease.
Chronic obstructive pulmonary disease
2,940 European ancestry cases, 1,380 European ancestry controls
502 European ancestry cases, 504 European ancestry controls, 1,110 cases, 2,698 controls
Illumina [499578]
3
chronic obstructive pulmonary disease
http://www.ebi.ac.uk/efo/EFO_0000341
GCST000603
Genome-wide genotyping array
null
false
NA
false
2013-04-17
23,307,926
Perry JR
2013-01-09
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/23307926
A genome-wide association study of early menopause and the combined impact of identified variants.
Menopause (age at onset)
3,493 European ancestry cases, 13,598 European ancestry controls
3,412 European ancestry cases, 4,928 European ancestry controls
NR [NR]
8
age at menopause
http://www.ebi.ac.uk/efo/EFO_0004704
GCST001810
Genome-wide genotyping array
null
false
NA
false
2011-12-03
22,054,870
De Jager PL
2011-11-03
Neurobiol Aging
www.ncbi.nlm.nih.gov/pubmed/22054870
A genome-wide scan for common variants affecting the rate of age-related cognitive decline.
Cognitive decline
749 European ancestry individuals
1,562 European ancestry individuals, 717 cases
Affymetrix [672266]
1
psychomotor performance
http://www.ebi.ac.uk/efo/EFO_0004362
GCST001311
Genome-wide genotyping array
null
false
NA
false
2012-09-14
22,780,124
Lind PA
2012-07-11
Addict Biol
www.ncbi.nlm.nih.gov/pubmed/22780124
Genome-wide association study of a quantitative disordered gambling trait.
Gambling
1,312 European ancestry twins from 894 families
NA
Illumina [2373249] (imputed)
5
gambling behaviour
http://www.ebi.ac.uk/efo/EFO_0004699
GCST001601
Genome-wide genotyping array
null
false
NA
false
2011-11-24
22,030,708
Menke A
2011-10-26
Neuropsychopharmacology
www.ncbi.nlm.nih.gov/pubmed/22030708
Genome-wide association study of antidepressant treatment-emergent suicidal ideation.
Suicidal ideation
397 European ancestry depressive disorder cases
501 European ancestry depressive disorder cases
Illumina [371335]
0
suicidal ideation
http://www.ebi.ac.uk/efo/EFO_0004320
GCST001296
Genome-wide genotyping array
null
false
NA
false
2013-09-12
23,535,729
Michailidou K
2013-04-01
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/23535729
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
Breast cancer
10,052 European ancestry cases, 12,575 European ancestry controls
45,290 European ancestry cases, 41,880 European ancestry controls
Affymetrix, Illumina [~ 2600000] (imputed)
63
breast carcinoma
http://www.ebi.ac.uk/efo/EFO_0000305
GCST001937
Genome-wide genotyping array
null
false
NA
false
2011-12-15
22,080,838
Cho MH
2011-11-11
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/22080838
A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.
Chronic obstructive pulmonary disease
3,499 European ancestry cases, 1,922 European ancestry controls
983 cases, 1,876 sibling controls
Illumina [797983]
4
chronic obstructive pulmonary disease
http://www.ebi.ac.uk/efo/EFO_0000341
GCST001321
Genome-wide genotyping array
null
false
NA
false
2011-12-16
22,075,330
Granada M
2011-11-08
J Allergy Clin Immunol
www.ncbi.nlm.nih.gov/pubmed/22075330
A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.
IgE levels
6,819 European ancestry individuals
7,809 European ancestry indivduals
Affymetrix [2540223] (imputed)
11
serum IgE amount
http://purl.obolibrary.org/obo/OBA_2050084
GCST001316
Genome-wide genotyping array
null
false
NA
false
2012-10-09
22,885,925
Shi Y
2012-08-12
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/22885925
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
Polycystic ovary syndrome
2,254 Han Chinese ancestry cases, 3,001 Han Chinese ancestry controls
8,226 Han Chinese ancestry cases, 7,578 Han Chinese ancestry controls
Affymetrix [NR] (imputed)
11
polycystic ovary syndrome
http://www.ebi.ac.uk/efo/EFO_0000660
GCST001634
Genome-wide genotyping array
null
false
NA
false
2012-09-29
22,883,433
Irish Schizophrenia Genomics Consortium and the Wellcome Trust Case Control Consortium 2
2012-08-07
Biol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/22883433
Genome-wide association study implicates HLA-C*01:02 as a risk factor at the major histocompatibility complex locus in schizophrenia.
Schizophrenia
1,606 European ancestry cases, 1,794 European ancestry controls
13,195 European ancestry cases, 31,021 European ancestry controls
Affymetrix [6212339]
2
schizophrenia
http://purl.obolibrary.org/obo/MONDO_0005090
GCST001631
Genome-wide genotyping array
null
false
NA
false
2015-05-14
22,041,458
Clark SL
2011-11-01
Psychol Med
www.ncbi.nlm.nih.gov/pubmed/22041458
Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.
Response to anti-depressant treatment in major depressive disorder
1,151 European ancestry cases, 288 African American cases
NA
Affymetrix [421789]
22
response to antidepressant
http://purl.obolibrary.org/obo/GO_0036276
GCST001308
Genome-wide genotyping array
null
false
NA
false
2011-11-25
22,021,425
Carty CL
2011-10-21
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/22021425
Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).
Height
8,149 African American female individuals
Up to 20,809 African American and African ancestry individuals
Affymetrix [855034]
8
body height
http://purl.obolibrary.org/obo/OBA_VT0001253
GCST001290
Genome-wide genotyping array
null
false
NA
false
2011-05-27
21,533,024
Pare G
2011-04-21
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21533024
Genome-wide association analysis of soluble ICAM-1 concentration reveals novel associations at the NFKBIK, PNPLA3, RELA, and SH2B3 loci.
Soluble ICAM-1
22,435 European ancestry female individuals
9,813 individuals
Illumina [334295]
3
ICAM-1 measurement
http://www.ebi.ac.uk/efo/EFO_0004520
GCST001047
Genome-wide genotyping array
null
false
NA
false
2013-07-09
23,535,734
Codd V
2013-04-01
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/23535734
Identification of seven loci affecting mean telomere length and their association with disease.
Telomere length
37,684 European ancestry individuals
10,739 European ancestry individuals
Affymetrix, Illumina [2362330]
3
chromosome, telomeric region length
http://purl.obolibrary.org/obo/OBA_0003784
GCST001936
Genome-wide genotyping array
null
false
NA
false
2013-06-01
23,456,168
Hao Y
2013-03-03
Hum Genet
www.ncbi.nlm.nih.gov/pubmed/23456168
Genome-wide association study in Han Chinese identifies three novel loci for human height.
Height
6,534 Han Chinese ancestry individuals
1,881 Han Chinese ancestry individuals from 637 families
Affymetrix [1532051] (imputed)
11
body height
http://purl.obolibrary.org/obo/OBA_VT0001253
GCST001885
Genome-wide genotyping array
null
false
NA
false
2013-11-03
20,350,937
Takahashi M
2010-03-29
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/20350937
The FOXE1 locus is a major genetic determinant for radiation-related thyroid carcinoma in Chernobyl.
Thyroid cancer (Papillary, radiation-related)
401 European ancestry cases, 620 European ancestry controls
259 cases, 648 controls
Illumina [506840]
1
thyroid carcinoma
http://www.ebi.ac.uk/efo/EFO_0002892
GCST000640
Genome-wide genotyping array
null
false
NA
false
2013-04-30
23,480,133
Kim Y
2011-02-28
World J Biol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/23480133
Association of intronic sequence variant in the gene encoding spleen tyrosine kinase with susceptibility to vascular dementia.
Vascular dementia
84 Korean ancestry cases, 200 Korean ancestry controls
113 Korean ancestry cases, 255 Korean ancestry controls
NR [300640]
1
vascular dementia
http://www.ebi.ac.uk/efo/EFO_0004718
GCST000993
Genome-wide genotyping array
null
false
NA
false
2013-02-06
23,146,381
Levin AM
2012-11-10
J Allergy Clin Immunol
www.ncbi.nlm.nih.gov/pubmed/23146381
A meta-analysis of genome-wide association studies for serum total IgE in diverse study populations.
IgE levels
2,469 African American individuals, 259 Latino individuals, 1,564 European ancestry individuals
2,961 African American individuals, 1,477 Latino individuals, 649 European ancestry individuals, 680 Hutterite individuals
Affymetrix, Illumina [NR] (imputed)
4
serum IgE amount
http://purl.obolibrary.org/obo/OBA_2050084
GCST001739
Genome-wide genotyping array
null
false
NA
false
2013-07-01
23,482,656
Chen D
2013-03-12
J Natl Cancer Inst
www.ncbi.nlm.nih.gov/pubmed/23482656
Genome-wide association study of susceptibility loci for cervical cancer.
Cervical cancer
1,034 European ancestry cases, 3,948 European ancestry controls
1,140 European ancestry cases, 1,058 European ancestry controls
Illumina [632668]
6
cervical carcinoma
http://www.ebi.ac.uk/efo/EFO_0001061
GCST001900
Genome-wide genotyping array
null
false
NA
false
2014-02-25
23,910,658
McRae JF
2013-07-31
Curr Biol
www.ncbi.nlm.nih.gov/pubmed/23910658
Identification of regions associated with variation in sensitivity to food-related odors in the human genome.
Odorant perception (isobutyraldehyde)
187 European ancestry individuals
Up to 109 Asian ancestry indiviudals
Affymetrix [619656]
1
sensory perception of smell
http://purl.obolibrary.org/obo/GO_0007608
GCST002105
Genome-wide genotyping array
null
false
NA
false
2014-02-21
23,910,658
McRae JF
2013-07-31
Curr Biol
www.ncbi.nlm.nih.gov/pubmed/23910658
Identification of regions associated with variation in sensitivity to food-related odors in the human genome.
Odorant perception (β-damascenone)
187 European ancestry individuals
89 European ancestry individuals
Affymetrix [619656]
1
sensory perception of smell
http://purl.obolibrary.org/obo/GO_0007608
GCST002106
Genome-wide genotyping array
null
false
NA
false
2015-04-14
23,910,658
McRae JF
2013-07-31
Curr Biol
www.ncbi.nlm.nih.gov/pubmed/23910658
Identification of regions associated with variation in sensitivity to food-related odors in the human genome.
Odorant perception (β-ionone)
187 European ancestry individuals
Up to 109 Asian ancestry individuals
Affymetrix [619656]
1
sensory perception of smell
http://purl.obolibrary.org/obo/GO_0007608
GCST002107
Genome-wide genotyping array
null
false
NA
false
2014-03-02
23,900,074
Pooley KA
2013-07-29
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/23900074
A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk.
Telomere length
2,240 European ancestry individuals
11,024 breast cancer cases, 15,065 controls
Illumina, Perlegen [2448093] (imputed)
1
chromosome, telomeric region length
http://purl.obolibrary.org/obo/OBA_0003784
GCST002103
Genome-wide genotyping array
null
false
NA
false
2014-03-01
23,918,034
Kuhnisch J
2013-08-07
Clin Oral Investig
www.ncbi.nlm.nih.gov/pubmed/23918034
Genome-wide association study (GWAS) for molar-incisor hypomineralization (MIH).
Molar-incisor hypomineralization
88 European ancestry cases, 580 European ancestry controls
NA
Affymetrix [2013491] (imputed)
5
molar-incisor hypomineralization
http://www.ebi.ac.uk/efo/EFO_0005321
GCST002114
Genome-wide genotyping array
null
false
NA
false
2012-11-22
23,055,271
Gregersen PK
2012-07-16
Ann Neurol
www.ncbi.nlm.nih.gov/pubmed/23055271
Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08.
Myasthenia gravis
400 European ancestry cases, 5,505 European ancestry controls
249 European ancestry cases, 3,415 European ancestry controls
Illumina [274256]
6
immune system disease
http://www.ebi.ac.uk/efo/EFO_0000540
GCST001611
Genome-wide genotyping array
null
false
NA
false
2013-06-06
23,396,134
Verhoeven VJ
2013-02-10
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/23396134
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
Refractive error
37,382 European ancestry individuals, 3,995 Chinese ancestry individuals, 2,273 Malay ancestry individuals, 2,108 Indian ancestry individuals
NA
Affymetrix, Illumina [2500000] (imputed)
26
Abnormality of refraction
http://purl.obolibrary.org/obo/HP_0000539
GCST001858
Genome-wide genotyping array
null
false
NA
false
2014-03-13
23,918,589
Negi S
2013-12-01
Arthritis Rheum
www.ncbi.nlm.nih.gov/pubmed/23918589
A genome-wide association study reveals ARL15, a novel non-HLA susceptibility gene for rheumatoid arthritis in North Indians.
Rheumatoid arthritis
706 North Indian ancestry cases, 761 North Indian ancestry controls
927 North Indian ancestry cases, 1,148 North Indian ancestry controls
Illumina [559348]
2
rheumatoid arthritis
http://www.ebi.ac.uk/efo/EFO_0000685
GCST002300
Genome-wide genotyping array
null
false
NA
false
2014-03-09
24,024,966
Teumer A
2013-08-14
J Clin Periodontol
www.ncbi.nlm.nih.gov/pubmed/24024966
Genome-wide association study of chronic periodontitis in a general German population.
Periodontitis (DPAL)
up to 2,501 European ancestry individuals
NA
Affymetrix, Illumina [up to 17585496] (imputed)
15
periodontitis
http://www.ebi.ac.uk/efo/EFO_0000649
GCST002129
Genome-wide genotyping array
null
false
NA
false
2014-03-09
24,024,966
Teumer A
2013-08-14
J Clin Periodontol
www.ncbi.nlm.nih.gov/pubmed/24024966
Genome-wide association study of chronic periodontitis in a general German population.
Periodontitis (PAL4Q3)
up to 2,969 European ancestry individuals
NA
Affymetrix, Illumina [up to 17585496] (imputed)
18
periodontitis
http://www.ebi.ac.uk/efo/EFO_0000649
GCST002136
Genome-wide genotyping array
null
false
NA
false
2014-03-09
24,024,966
Teumer A
2013-08-14
J Clin Periodontol
www.ncbi.nlm.nih.gov/pubmed/24024966
Genome-wide association study of chronic periodontitis in a general German population.
Periodontitis (Mean PAL)
up to 4,032 European ancestry individuals
NA
Affymetrix, Illumina [up to 17585496] (imputed)
37
periodontitis
http://www.ebi.ac.uk/efo/EFO_0000649
GCST002127
Genome-wide genotyping array
null
false
NA
false
2014-03-09
24,024,966
Teumer A
2013-08-14
J Clin Periodontol
www.ncbi.nlm.nih.gov/pubmed/24024966
Genome-wide association study of chronic periodontitis in a general German population.
Periodontitis (CDC/AAP)
up to 3,915 European ancestry individuals
NA
Affymetrix, Illumina [up to 17585496] (imputed)
28
periodontitis
http://www.ebi.ac.uk/efo/EFO_0000649
GCST002126
Genome-wide genotyping array
null
false
NA
false
2014-04-16
24,162,737
Lambert JC
2013-10-27
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/24162737
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
Alzheimer's disease (late onset)
17,008 European ancestry cases, 37,154 European ancestry controls
8,572 European ancestry cases, 11,312 European ancestry controls
Illumina [7055881] (imputed)
33
Alzheimer disease
http://purl.obolibrary.org/obo/MONDO_0004975
GCST002245
Genome-wide genotyping array
null
true
http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/GCST002001-GCST003000/GCST002245
false
2013-05-01
23,326,239
Rubicz R
2013-01-10
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/23326239
A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).
Epstein-Barr virus immune response (EBNA-1)
1,367 Mexican American indivduals
589 Mexican American indivduals
Illumina [944565]
2
blood immunoglobulin amount, Epstein-Barr virus infection
http://purl.obolibrary.org/obo/OBA_VT0002460, http://www.ebi.ac.uk/efo/EFO_0000769
GCST001812
Genome-wide genotyping array
null
false
NA
false
2012-12-11
23,028,342
Sandholm N
2012-09-20
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/23028342
New susceptibility loci associated with kidney disease in type 1 diabetes.
Type 1 diabetes nephropathy
Up to 2,916 European ancestry Type 1 Diabetes cases with nephropathy, 3,315 European ancestry Type 1 Diabetes cases without nephropathy
Up to 1,493 European ancestry Type 1 Diabetes cases with nephropathy, 3,191 European ancestry Type 1 Diabetes cases without nephropathy
Affymetrix, Illumina [~ 2500000] (imputed)
11
diabetic nephropathy
http://www.ebi.ac.uk/efo/EFO_0000401
GCST001688
Genome-wide genotyping array
null
false
NA
false
2012-05-11
22,472,876
Sullivan PF
2012-04-03
Mol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/22472876
A mega-analysis of genome-wide association studies for major depressive disorder.
Major depressive disorder
9,240 European ancestry cases, 9,519 European ancestry controls
6,783 European ancestry cases, 50,695 European ancestry controls
Affymetrix, Illumina, Perlegen [~ 1200000] (imputed)
5
major depressive disorder
http://purl.obolibrary.org/obo/MONDO_0002009
GCST001469
Genome-wide genotyping array
null
false
NA
false
2014-08-08
24,047,446
Schosser A
2013-09-19
World J Biol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/24047446
Genome-wide association study of co-occurring anxiety in major depression.
Anxiety in major depressive disorder
1,080 European ancestry cases, 442 European ancestry controls
NA
Illumina [471581]
8
Anxiety
http://purl.obolibrary.org/obo/HP_0000739
GCST002202
Genome-wide genotyping array
null
false
NA
false
2014-08-08
24,047,446
Schosser A
2013-09-19
World J Biol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/24047446
Genome-wide association study of co-occurring anxiety in major depression.
Anxiety and major depressive disorder
1,080 European ancestry cases, 1,588 European ancestry controls
NA
Illumina [471581]
3
Anxiety, major depressive disorder
http://purl.obolibrary.org/obo/HP_0000739, http://purl.obolibrary.org/obo/MONDO_0002009
GCST002200
Genome-wide genotyping array
null
false
NA
false
2013-09-21
23,650,146
Tang W
2013-05-05
Genet Epidemiol
www.ncbi.nlm.nih.gov/pubmed/23650146
A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.
Venous thromboembolism
1,618 European ancestry cases, 42,881 European ancestry controls
3,231 European ancestry cases, 3,536 European ancestry controls
Affymetrix, Illumina [2543885] (imputed)
8
venous thromboembolism
http://www.ebi.ac.uk/efo/EFO_0004286
GCST002012
Genome-wide genotyping array
null
false
NA
false
2014-04-04
23,999,434
Ho JE
2013-09-03
J Clin Invest
www.ncbi.nlm.nih.gov/pubmed/23999434
Common genetic variation at the IL1RL1 locus regulates IL-33/ST2 signaling.
Serum protein levels (sST2)
2,797 individuals
NA
Affymetrix [2500000] (imputed)
14
serum ST2 amount
http://purl.obolibrary.org/obo/OBA_2050082
GCST002166
Genome-wide genotyping array
null
false
NA
false
2013-04-11
22,504,420
Estrada K
2012-04-15
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/22504420
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
Lumbar spine bone mineral density
Up to 32,961 European and East Asian ancestry individuals
Up to 50,933 European and East Asian ancestry individuals
Affymetrix, Illumina [~ 2500000] (imputed)
34
bone tissue density
http://purl.obolibrary.org/obo/OBA_1000110
GCST001482
Genome-wide genotyping array
null
true
http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/GCST001001-GCST002000/GCST001482
false
2019-05-01
22,504,420
Estrada K
2012-04-15
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/22504420
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
Femoral neck bone mineral density
Up to 32,961 European and East Asian ancestry individuals
Up to 50,933 European and East Asian ancestry individuals
Affymetrix, Illumina [~ 2500000] (imputed)
35
femoral neck bone mineral density
http://www.ebi.ac.uk/efo/EFO_0007785
GCST007691
Genome-wide genotyping array
null
true
http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/GCST007001-GCST008000/GCST007691
false
2010-03-30
20,222,955
Pattaro C
2010-03-11
BMC Med Genet
www.ncbi.nlm.nih.gov/pubmed/20222955
A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level.
Creatinine levels
4,006 European ancestry individuals
2,035 European ancestry individuals
Illumina [~ 322498]
0
serum creatinine amount
http://purl.obolibrary.org/obo/OBA_2050096
GCST000622
Genome-wide genotyping array
null
false
NA
false
2013-12-07
23,785,401
Leone MA
2013-06-13
PLoS One
www.ncbi.nlm.nih.gov/pubmed/23785401
Association of genetic markers with CSF oligoclonal bands in multiple sclerosis patients.
Multiple sclerosis (OCB status)
49 European ancestry OCB negative cases, 513 European ancestry OCB positive cases
200 European ancestry OCB negative cases, 1684 European ancestry OCB positive cases
Illumina [504967]
1
multiple sclerosis
http://purl.obolibrary.org/obo/MONDO_0005301
GCST002072
Genome-wide genotyping array
null
false
NA
false
2012-12-21
23,054,467
Postula M
2012-10-04
J Thromb Thrombolysis
www.ncbi.nlm.nih.gov/pubmed/23054467
New single nucleotide polymorphisms associated with differences in platelets reactivity in patients with type 2 diabetes treated with acetylsalicylic acid: genome-wide association approach and pooled DNA strategy.
Platelet reactivity
289 European ancestry type 2 diabetes cases treated with acetylsalicylic acid
NA
Illumina [200251]
0
platelet reactivity efficacy
http://purl.obolibrary.org/obo/OBA_2045287
GCST001705
Genome-wide genotyping array
null
false
NA
false
2012-06-21
22,504,417
Stein JL
2012-04-15
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/22504417
Identification of common variants associated with human hippocampal and intracranial volumes.
Brain structure
2,020 European ancestry neuropsychiatric disorder cases, 5,775 European ancestry controls
599 European ancestry neuropsychiatric disorder cases, 11,915 European ancestry controls, 143 European ancestry and African American neuropsychiatric disorder cases, 94 European ancestry and African American controls, 605 Hispanic controls
Affymetrix, Illumina [NR] (imputed)
2
brain attribute
http://purl.obolibrary.org/obo/OBA_2045210
GCST001481
Genome-wide genotyping array
null
false
NA
false
2012-06-01
22,504,418
Ikram MA
2012-04-15
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/22504418
Common variants at 6q22 and 17q21 are associated with intracranial volume.
Intracranial volume
8,175 European ancestry individuals
1,752 European ancestry individuals
Affymetrix, Illumina [2229753] (imputed)
2
intracranial volume measurement
http://www.ebi.ac.uk/efo/EFO_0004886
GCST001483
Genome-wide genotyping array
null
false
NA
false
2013-12-05
23,749,188
Tan DE
2013-06-09
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/23749188
Genome-wide association study of B cell non-Hodgkin lymphoma identifies 3q27 as a susceptibility locus in the Chinese population.
B cell non-Hodgkin lymphoma
253 Singaporean Chinese ancestry cases, 1,438 Singaporean Chinese ancestry controls
1,175 Han Chinese ancestry cases, 5,492 Han Chinese ancestry controls
Illumina [550946]
1
lymphoma
http://www.ebi.ac.uk/efo/EFO_0000574
GCST002066
Genome-wide genotyping array
null
false
NA
false
2012-05-15
22,488,850
Zuo L
2012-04-04
Am J Med Genet B Neuropsychiatr Genet
www.ncbi.nlm.nih.gov/pubmed/22488850
Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.
Alcohol and nicotine co-dependence
818 European ancestry cases, 1,396 European ancestry controls, 449 African American cases, 480 African American controls
NA
Illumina [805814]
8
alcohol and nicotine codependence
http://www.ebi.ac.uk/efo/EFO_0004776
GCST001471
Genome-wide genotyping array
null
false
NA
false
2012-06-19
22,491,018
Wang J
2012-04-10
Pharmacogenomics J
www.ncbi.nlm.nih.gov/pubmed/22491018
Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.
Response to tocilizumab in rheumatoid arthritis
1,157 European and other ancestry rheumatoid arthritis cases
526 European and other ancestry rheumatoid arthritis cases
Illumina [534053]
31
response to xenobiotic stimulus
http://purl.obolibrary.org/obo/GO_0009410
GCST001476
Genome-wide genotyping array
null
false
NA
false
2012-04-06
22,417,934
Athanasiu L
2012-03-12
Psychiatry Res
www.ncbi.nlm.nih.gov/pubmed/22417934
Genome-wide association study identifies genetic loci associated with body mass index and high density lipoprotein-cholesterol levels during psychopharmacological treatment - a cross-sectional naturalistic study.
Body mass index and cholesterol (psychopharmacological treatment)
283 European ancestry schizophrenia cases, 213 European ancestry bipolar disorder cases, 98 European ancestry psychosis cases
NA
Affymetrix [608239]
2
total cholesterol measurement, body mass index, response to xenobiotic stimulus
http://www.ebi.ac.uk/efo/EFO_0004574, http://www.ebi.ac.uk/efo/EFO_0004340, http://purl.obolibrary.org/obo/GO_0009410
GCST001440
Genome-wide genotyping array
null
false
NA
false
2012-05-02
22,470,424
Kwee LC
2012-03-28
PLoS One
www.ncbi.nlm.nih.gov/pubmed/22470424
A high-density genome-wide association screen of sporadic ALS in US veterans.
Amyotrophic lateral sclerosis
Up to 639 European ancestry cases, 6,257 European ancestry controls
Up to 183 European ancestry cases, 961 European ancestry controls
Affymetrix, Illumina [1280579]
2
amyotrophic lateral sclerosis
http://purl.obolibrary.org/obo/MONDO_0004976
GCST001460
Genome-wide genotyping array
null
false
NA
false
2013-10-18
20,152,958
Xing C
2010-02-11
Am J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/20152958
A weighted false discovery rate control procedure reveals alleles at FOXA2 that influence fasting glucose levels.
Fasting plasma glucose
2,029 African American individuals, 7,428 European ancestry individuals
1,571 African American individuals, 3,825 European ancestry individuals
Affymetrix [814004]
1
blood glucose amount
http://purl.obolibrary.org/obo/OBA_VT0000188
GCST000591
Genome-wide genotyping array
null
false
NA
false
2013-09-12
23,624,525
Deng M
2013-04-28
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/23624525
Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis
506 Han Chinese ancestry cases, 1,859 Han Chinese ancestry controls
706 Han Chinese ancestry cases, 1,777 Han Chinese ancestry controls
Illumina [473683]
2
amyotrophic lateral sclerosis
http://purl.obolibrary.org/obo/MONDO_0004976
GCST001981
Genome-wide genotyping array
null
false
NA
false
2011-12-17
22,085,899
Chen G
2011-11-16
Eur J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/22085899
UGT1A1 is a major locus influencing bilirubin levels in African Americans.
Bilirubin levels
619 African American individuals
NA
Affymetrix [808465]
9
bilirubin measurement
http://www.ebi.ac.uk/efo/EFO_0004570
GCST001324
Genome-wide genotyping array
null
false
NA
false
2012-05-11
22,492,993
Doumatey AP
2012-04-05
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/22492993
C-reactive protein (CRP) promoter polymorphisms influence circulating CRP levels in a genome-wide association study of African Americans.
C-reactive protein
837 African American individuals
486 West African ancestry individuals
Affymetrix [2366856] (imputed)
1
C-reactive protein measurement
http://www.ebi.ac.uk/efo/EFO_0004458
GCST001472
Genome-wide genotyping array
null
false
NA
false
2012-06-18
22,494,929
Rawal R
2012-04-16
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/22494929
Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function.
Thyroid function
3,736 European ancestry individuals
3,727 European ancestry individuals
Affymetrix, Illumina [2524918] (imputed)
4
thyroid function
http://www.ebi.ac.uk/efo/EFO_0004296
GCST001487
Genome-wide genotyping array
null
false
NA
false
2011-12-21
22,131,368
Chen CT
2011-11-30
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/22131368
Replication of loci influencing ages at menarche and menopause in Hispanic women: the Women's Health Initiative SHARe Study.
Menarche and menopause (age at onset)
3,468 Hispanic female individuals
NA
Affymetrix [871309]
0
age at menarche, age at menopause
http://www.ebi.ac.uk/efo/EFO_0004703, http://www.ebi.ac.uk/efo/EFO_0004704
GCST001336
Genome-wide genotyping array
null
false
NA
false
2011-12-10
21,983,787
Barrett JH
2011-10-09
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/21983787
Genome-wide association study identifies three new melanoma susceptibility loci.
Melanoma
2,804 European ancestry cases, 7,618 European ancestry controls
5,551 European ancestry cases, 7,449 European ancestry controls
Illumina [594997]
10
melanoma
http://www.ebi.ac.uk/efo/EFO_0000756
GCST001267
Genome-wide genotyping array
null
false
NA
false
2008-12-01
18,980,221
Neale BM
2008-11-03
Am J Med Genet B Neuropsychiatr Genet
www.ncbi.nlm.nih.gov/pubmed/18980221
Genome-wide association scan of attention deficit hyperactivity disorder.
Attention deficit hyperactivity disorder
909 European ancestry trios
NA
Perlegen [438784]
0
attention deficit hyperactivity disorder
http://www.ebi.ac.uk/efo/EFO_0003888
GCST000259
Genome-wide genotyping array
null
false
NA
false
2008-11-12
18,836,448
Franke A
2008-10-05
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/18836448
Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.
Ulcerative colitis
1,167 European ancestry cases, 777 European ancestry controls
1,855 European ancestry cases, 3,091 European ancestry controls
Affymetrix [355262]
2
ulcerative colitis
http://www.ebi.ac.uk/efo/EFO_0000729
GCST000243
Genome-wide genotyping array
null
false
NA
false
2009-01-06
19,065,144
Sullivan PF
2008-12-09
Mol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/19065144
Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo.
Major depressive disorder
1,738 European ancestry cases, 1,802 European ancestry controls
6,079 European ancestry cases, 5,893 European ancestry controls
Perlegen [435291]
0
major depressive disorder
http://purl.obolibrary.org/obo/MONDO_0002009
GCST000293
Genome-wide genotyping array
null
false
NA
false
2012-04-28
22,497,812
Clark PJ
2012-02-22
J Viral Hepat
www.ncbi.nlm.nih.gov/pubmed/22497812
Interleukin 28B polymorphisms are the only common genetic variants associated with low-density lipoprotein cholesterol (LDL-C) in genotype-1 chronic hepatitis C and determine the association between LDL-C and treatment response.
Lipid levels in hepatitis C treatment
1,017 European ancestry cases, 207 African American cases, 95 Hispanic cases
NA
Illumina [565759]
1
low density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004611
GCST001418
Genome-wide genotyping array
null
false
NA
false
2008-10-14
18,762,592
van den Oord EJ
2008-09-01
Arch Gen Psychiatry
www.ncbi.nlm.nih.gov/pubmed/18762592
Genomewide association analysis followed by a replication study implicates a novel candidate gene for neuroticism.
Neuroticism
1,227 European ancestry individuals
1,880 European ancestry individuals
Affymetrix [420287]
3
neurotic disorder
http://www.ebi.ac.uk/efo/EFO_0004257
GCST000226
Genome-wide genotyping array
null
false
NA
false
2011-09-21
21,829,393
Plagnol V
2011-08-04
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21829393
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
Type 1 diabetes
8,506 European ancestry cases, up to 10,596 European ancestry controls
NA
Affymetrix, Illumina [NR]
22
type 1 diabetes mellitus
http://purl.obolibrary.org/obo/MONDO_0005147
GCST001191
Genome-wide genotyping array
null
false
NA
false
2017-07-24
21,829,393
Plagnol V
2011-08-04
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21829393
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
Glutamate decarboxylase autoantibody levels in type 1 diabetes
2,506 European ancestry cases
NA
Affymetrix, Illumina [NR]
0
autoantibody measurement
http://www.ebi.ac.uk/efo/EFO_0004866
GCST004380
Genome-wide genotyping array
null
false
NA
false
2017-07-24
21,829,393
Plagnol V
2011-08-04
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21829393
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
Insulinoma-associated antigen 2 autoantibody levels in type 1 diabetes
2,498 European ancestry cases
3,897 sibling cases
Affymetrix, Illumina [NR]
1
autoantibody measurement
http://www.ebi.ac.uk/efo/EFO_0004866
GCST004381
Genome-wide genotyping array
null
false
NA
false
2017-07-24
21,829,393
Plagnol V
2011-08-04
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21829393
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
Gastric parietal cell autoantibody levels in type 1 diabetes
4,328 European ancestry cases
NA
Affymetrix, Illumina [NR]
1
autoantibody measurement
http://www.ebi.ac.uk/efo/EFO_0004866
GCST004382
Genome-wide genotyping array
null
false
NA
false
2017-07-24
21,829,393
Plagnol V
2011-08-04
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21829393
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
Thyroid peroxidase autoantibody levels in type 1 diabetes
8,300 European ancestry cases
NA
Affymetrix, Illumina [NR]
1
blood immunoglobulin amount
http://purl.obolibrary.org/obo/OBA_VT0002460
GCST004383
Genome-wide genotyping array
null
false
NA
false