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bool
2 classes
2008-06-16
15,761,122
Klein RJ
2005-03-10
Science
www.ncbi.nlm.nih.gov/pubmed/15761122
Complement factor H polymorphism in age-related macular degeneration.
Age-related macular degeneration
96 European ancestry cases, 50 European ancestry controls
NA
Affymetrix [103611]
1
age-related macular degeneration
http://www.ebi.ac.uk/efo/EFO_0001365
GCST000001
Genome-wide genotyping array
null
false
NA
false
2008-06-16
17,478,679
Helgadottir A
2007-05-03
Science
www.ncbi.nlm.nih.gov/pubmed/17478679
A common variant on chromosome 9p21 affects the risk of myocardial infarction.
Myocardial infarction
1,607 European ancestry cases, 6,728 European ancestry controls
2,980 European ancestry cases, 6,309 European ancestry controls
Illumina [305953]
1
myocardial infarction
http://www.ebi.ac.uk/efo/EFO_0000612
GCST000030
Genome-wide genotyping array
null
false
NA
false
2009-06-14
19,478,819
Ng CC
2009-05-29
J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/19478819
A genome-wide association study identifies ITGA9 conferring risk of nasopharyngeal carcinoma.
Nasopharyngeal carcinoma
111 Malaysian Chinese ancestry cases, 260 Malaysian Chinese ancestry controls
168 Malaysian Chinese ancestry cases, 252 Malaysian Chinese ancestry controls
Illumina [533048]
1
nasopharyngeal neoplasm
http://www.ebi.ac.uk/efo/EFO_0004252
GCST000413
Genome-wide genotyping array
null
false
NA
false
2010-03-12
20,172,861
Okada Y
2010-02-18
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/20172861
Common variations in PSMD3-CSF3 and PLCB4 are associated with neutrophil count.
Neutrophil count
5,771 Japanese ancestry individuals
1,894 Japanese ancestry individuals
Illumina [486091]
2
neutrophil count
http://www.ebi.ac.uk/efo/EFO_0004833
GCST000600
Genome-wide genotyping array
null
false
NA
false
2009-10-15
19,197,348
Lowe JK
2009-02-06
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/19197348
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
Quantitative traits
2,906 Kosraen individuals
NA
Affymetrix [408775]
33
total cholesterol measurement, body fat distribution, C-reactive protein measurement, body mass index, high density lipoprotein cholesterol measurement, diastolic blood pressure, triglyceride measurement, systolic blood pressure, low density lipoprotein cholesterol measurement, waist circumference, body weight, body he...
http://www.ebi.ac.uk/efo/EFO_0004574, http://www.ebi.ac.uk/efo/EFO_0004341, http://www.ebi.ac.uk/efo/EFO_0004458, http://www.ebi.ac.uk/efo/EFO_0004340, http://www.ebi.ac.uk/efo/EFO_0004612, http://www.ebi.ac.uk/efo/EFO_0006336, http://www.ebi.ac.uk/efo/EFO_0004530, http://www.ebi.ac.uk/efo/EFO_0006335, http://www.ebi.a...
GCST000337
Genome-wide genotyping array
null
false
NA
false
2011-01-15
21,150,874
McDonough CW
2010-12-08
Kidney Int
www.ncbi.nlm.nih.gov/pubmed/21150874
A genome-wide association study for diabetic nephropathy genes in African Americans.
Type 2 diabetes nephropathy
965 African American cases, 1,029 African American controls
709 African American cases, 690 African American controls
Affymetrix [832357]
5
diabetic nephropathy
http://www.ebi.ac.uk/efo/EFO_0000401
GCST000909
Genome-wide genotyping array
null
false
NA
false
2009-06-17
19,503,088
Gregersen PK
2009-06-07
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19503088
REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.
Rheumatoid arthritis
2,418 European ancestry cases, 4,504 European ancestry controls
2,604 cases, 2,882 controls
Illumina [278502]
5
rheumatoid arthritis
http://www.ebi.ac.uk/efo/EFO_0000685
GCST000420
Genome-wide genotyping array
null
false
NA
false
2009-04-22
19,343,178
Soranzo N
2009-04-03
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/19343178
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
Height
12,611 European ancestry individuals
7,187 European ancestry individuals
Illumina [229216]
20
body height
http://purl.obolibrary.org/obo/OBA_VT0001253
GCST000372
Genome-wide genotyping array
null
false
NA
false
2009-09-28
17,911,428
Cervino AC
2007-10-08
Ann N Y Acad Sci
www.ncbi.nlm.nih.gov/pubmed/17911428
A genome-wide study of lupus: preliminary analysis and data release.
Lupus
51 cases,114 controls
NA
Affymetrix [241701]
0
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000112
Genome-wide genotyping array
null
false
NA
false
2013-04-17
23,337,848
Posti JP
2013-01-18
Pharmacogenet Genomics
www.ncbi.nlm.nih.gov/pubmed/23337848
A polymorphism in the protein kinase C gene PRKCB is associated with α2-adrenoceptor-mediated vasoconstriction.
Vascular constriction
64 European ancestry individuals
68 African America and European ancestry individuals
Illumina [433378]
0
cardiovascular disease
http://www.ebi.ac.uk/efo/EFO_0000319
GCST001828
Genome-wide genotyping array
null
false
NA
false
2015-05-06
22,158,540
Wu C
2011-12-11
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/22158540
Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.
Pancreatic cancer
981 Han Chinese ancestry cases, 1,991 Han Chinese ancestry controls
2,603 Han Chinese ancestry cases, 2,877 Han Chinese ancestry controls
Affymetrix [666141]
11
pancreatic carcinoma
http://www.ebi.ac.uk/efo/EFO_0002618
GCST001350
Genome-wide genotyping array
null
false
NA
false
2009-04-16
19,349,983
Kamatani Y
2009-04-06
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19349983
A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians.
Hepatitis B
179 Japanese ancestry cases, 934 Japanese ancestry controls
1,599 Japanese ancestry cases, 2,821 Japanese ancestry controls, 308 Thai ancestry cases, 546 Thai ancestry controls
Illumina [499544]
1
hepatitis B virus infection
http://www.ebi.ac.uk/efo/EFO_0004197
GCST000375
Genome-wide genotyping array
null
false
NA
false
2011-01-12
21,124,946
Paternoster L
2010-11-18
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21124946
Genome-wide association meta-analysis of cortical bone mineral density unravels allelic heterogeneity at the RANKL locus and potential pleiotropic effects on bone.
Bone mineral density
1,934 European ancestry individuals
Up to 3,835 European ancestry individuals
Illumina [2417199] (imputed)
1
bone tissue density
http://purl.obolibrary.org/obo/OBA_1000110
GCST000877
Genome-wide genotyping array
null
false
NA
false
2012-02-21
22,295,056
Christie JD
2012-01-25
PLoS One
www.ncbi.nlm.nih.gov/pubmed/22295056
Genome wide association identifies PPFIA1 as a candidate gene for acute lung injury risk following major trauma.
Acute lung injury
600 European ancestry cases, 2,266 European ancestry controls
212 European ancestry cases, 283 European ancestry controls
Illumina [2487415] (imputed)
0
acute lung injury
http://www.ebi.ac.uk/efo/EFO_0004610
GCST001383
Genome-wide genotyping array
null
false
NA
false
2009-01-14
19,084,217
Benyamin B
2008-12-17
Am J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/19084217
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
Iron status biomarkers
411 European ancestry individuals from 150 families
NA
Affymetrix [100846]
3
iron biomarker measurement
http://www.ebi.ac.uk/efo/EFO_0004461
GCST000302
Genome-wide genotyping array
null
false
NA
false
2009-01-14
19,084,217
Benyamin B
2008-12-17
Am J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/19084217
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
Iron status biomarkers
459 European ancestry twin pairs
NA
Illumina [315887]
24
iron biomarker measurement
http://www.ebi.ac.uk/efo/EFO_0004461
GCST000301
Genome-wide genotyping array
null
false
NA
false
2011-01-03
21,044,949
Yang J
2010-11-02
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/21044949
ELF1 is associated with systemic lupus erythematosus in Asian populations.
Systemic lupus erythematosus
612 Chinese ancestry cases, 1,160 Chinese ancestry controls
2,090 Chinese ancestry cases, 1,981 Chinese ancestry controls, 462 Thai ancestry cases, 951 Thai ancestry controls
Illumina [513108]
1
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000858
Genome-wide genotyping array
null
false
NA
false
2014-07-01
21,130,132
Mick E
2010-12-01
Prog Neuropsychopharmacol Biol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/21130132
Genome-wide association study of blood pressure response to methylphenidate treatment of attention-deficit/hyperactivity disorder.
Response to methylphenidate treatment in attention-deficit/hyperactivity disorder (blood pressure)
140 child cases
NA
Affymetrix [316934]
7
response to methylphenidate
http://purl.obolibrary.org/obo/GO_0036271
GCST000903
Genome-wide genotyping array
null
false
NA
false
2015-05-26
21,314,694
Kendler KS
2011-02-11
Alcohol Clin Exp Res
www.ncbi.nlm.nih.gov/pubmed/21314694
Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.
Alcohol dependence
2,357 European ancestry individuals, 812 African American individuals
NA
Affymetrix [NR]
3
alcohol dependence
http://purl.obolibrary.org/obo/MONDO_0007079
GCST000977
Genome-wide genotyping array
null
false
NA
false
2011-06-01
21,502,085
Troyer JL
2011-05-01
J Infect Dis
www.ncbi.nlm.nih.gov/pubmed/21502085
Genome-wide association study implicates PARD3B-based AIDS restriction.
AIDS progression
755 European ancestry seroconverter cases
NA
Affymetrix [700022]
7
AIDS
http://www.ebi.ac.uk/efo/EFO_0000765
GCST001060
Genome-wide genotyping array
null
false
NA
false
2011-05-25
21,505,073
Terao C
2011-04-19
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/21505073
The human AIRE gene at chromosome 21q22 is a genetic determinant for the predisposition to rheumatoid arthritis in Japanese population.
Rheumatoid arthritis
1,247 Japanese ancestry cases, 1,486 Japanese ancestry controls
4,168 Japanese ancestry cases, 5,003 Japanese ancestry controls
Illumina [241523]
3
rheumatoid arthritis
http://www.ebi.ac.uk/efo/EFO_0000685
GCST001042
Genome-wide genotyping array
null
false
NA
false
2012-01-24
21,254,220
Jiang Y
2011-02-01
Genet Epidemiol
www.ncbi.nlm.nih.gov/pubmed/21254220
Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.
Bipolar disorder
1,868 European ancestry cases, 2,938 European ancestry controls
NA
Affymetrix [NR]
24
bipolar disorder
http://purl.obolibrary.org/obo/MONDO_0004985
GCST000961
Genome-wide genotyping array
null
false
NA
false
2009-06-01
19,448,622
Sulem P
2009-05-15
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19448622
Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche.
Menarche (age at onset)
15,297 European ancestry female individuals
10,040 European ancestry female individuals
Illumina [304226]
1
age at menarche
http://www.ebi.ac.uk/efo/EFO_0004703
GCST000400
Genome-wide genotyping array
null
false
NA
false
2013-11-09
20,592,726
Chen SH
2010-06-30
Clin Pharmacol Ther
www.ncbi.nlm.nih.gov/pubmed/20592726
Genetic variations in GRIA1 on chromosome 5q33 related to asparaginase hypersensitivity.
Asparaginase hypersensitivity in acute lymphoblastic leukemia
211 European ancestry child cases, 40 Black child cases, 46 Hispanic child cases, 4 Asian ancestry child cases, 21 child cases
99 European ancestry child cases, 33 Black child cases, 24 Hispanic child cases, 2 Asian ancestry child cases, 5 child cases
Affymetrix [364033]
1
asparaginase hypersensitivity
http://www.ebi.ac.uk/efo/EFO_0004881
GCST000715
Genome-wide genotyping array
null
false
NA
false
2009-05-07
18,821,565
Lasky-Su J
2008-12-05
Am J Med Genet B Neuropsychiatr Genet
www.ncbi.nlm.nih.gov/pubmed/18821565
Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
Inattentive symptoms
930 European ancestry trios
NA
Perlegen [429981]
15
behavior
http://purl.obolibrary.org/obo/GO_0007610
GCST000279
Genome-wide genotyping array
null
false
NA
false
2009-05-07
18,821,565
Lasky-Su J
2008-12-05
Am J Med Genet B Neuropsychiatr Genet
www.ncbi.nlm.nih.gov/pubmed/18821565
Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
Hyperactive-impulsive symptoms
930 European ancestry trios
NA
Perlegen [429981]
14
behavior
http://purl.obolibrary.org/obo/GO_0007610
GCST000278
Genome-wide genotyping array
null
false
NA
false
2009-05-07
18,821,565
Lasky-Su J
2008-12-05
Am J Med Genet B Neuropsychiatr Genet
www.ncbi.nlm.nih.gov/pubmed/18821565
Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
Attention deficit hyperactivity disorder
930 European ancestry trios
NA
Perlegen [429981]
19
attention deficit hyperactivity disorder
http://www.ebi.ac.uk/efo/EFO_0003888
GCST000281
Genome-wide genotyping array
null
false
NA
false
2009-05-19
19,430,479
Levy D
2009-05-10
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19430479
Genome-wide association study of blood pressure and hypertension.
Hypertension
29,136 European ancestry individuals
34,433 European ancestry individuals
Affymetrix, Illumina [2533153] (imputed)
4
hypertension
http://www.ebi.ac.uk/efo/EFO_0000537
GCST000398
Genome-wide genotyping array
null
false
NA
false
2009-05-19
19,430,479
Levy D
2009-05-10
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19430479
Genome-wide association study of blood pressure and hypertension.
Systolic blood pressure
29,136 European ancestry individuals
34,433 European ancestry individuals
Affymetrix, Illumina [2533153] (imputed)
7
systolic blood pressure
http://www.ebi.ac.uk/efo/EFO_0006335
GCST000393
Genome-wide genotyping array
null
false
NA
false
2009-05-19
19,430,479
Levy D
2009-05-10
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19430479
Genome-wide association study of blood pressure and hypertension.
Diastolic blood pressure
29,136 European ancestry individuals
34,433 European ancestry individuals
Affymetrix, Illumina [2533153] (imputed)
7
diastolic blood pressure
http://www.ebi.ac.uk/efo/EFO_0006336
GCST000396
Genome-wide genotyping array
null
false
NA
false
2010-05-24
20,418,888
Thorgeirsson TE
2010-04-25
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/20418888
Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.
Smoking behavior
31,266 European ancestry individuals
54,731 European ancestry individuals
Affymetrix, Illumina [~ 2500000] (imputed)
5
smoking behavior
http://www.ebi.ac.uk/efo/EFO_0004318
GCST000667
Genome-wide genotyping array
null
false
NA
false
2011-05-13
21,497,890
Orange JS
2011-04-15
J Allergy Clin Immunol
www.ncbi.nlm.nih.gov/pubmed/21497890
Genome-wide association identifies diverse causes of common variable immunodeficiency.
Common variable immunodeficiency
179 European ancestry cases, 1,917 European ancestry controls
109 European ancestry cases, 1,114 European ancestry controls
Illumina [610000]
0
common variable immunodeficiency
http://purl.obolibrary.org/obo/MONDO_0015517
GCST001039
Genome-wide genotyping array
null
false
NA
false
2015-05-28
21,316,860
Velders FP
2011-02-11
Psychoneuroendocrinology
www.ncbi.nlm.nih.gov/pubmed/21316860
Genetics of cortisol secretion and depressive symptoms: a candidate gene and genome wide association approach.
Cortisol secretion
1,711 European ancestry individuals
2,836 European ancestry individuals
Illumina [530683]
0
cortisol secretion efficacy
http://purl.obolibrary.org/obo/OBA_2045286
GCST000978
Genome-wide genotyping array
null
false
NA
false
2009-05-07
19,412,175
Capasso M
2009-05-03
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19412175
Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.
Neuroblastoma (high-risk)
397 European ancestry cases, 2,043 European ancestry controls
371 European ancestry cases, 2,119 European ancestry controls
Illumina [462866]
1
neuroblastoma
http://www.ebi.ac.uk/efo/EFO_0000621
GCST000384
Genome-wide genotyping array
null
false
NA
false
2012-01-06
22,144,573
O'Donnell CJ
2011-12-05
Circulation
www.ncbi.nlm.nih.gov/pubmed/22144573
Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction.
Coronary artery calcification
9,961 European ancestry individuals
6,032 European ancestry individuals
Affymetrix, Illumina [~ 2500000] (imputed)
3
coronary artery calcification
http://www.ebi.ac.uk/efo/EFO_0004723
GCST001347
Genome-wide genotyping array
null
false
NA
false
2009-09-30
19,749,757
Tanaka Y
2009-09-13
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19749757
Genome-wide association of IL28B with response to pegylated interferon-alpha and ribavirin therapy for chronic hepatitis C.
Response to hepatitis C treatment
64 Japanese ancestry responders, 78 Japanese ancestry non-responders
122 Japanese ancestry responders, 50 Japanese ancestry non-responders
Affymetrix [621220]
1
chronic hepatitis C virus infection
http://www.ebi.ac.uk/efo/EFO_0004220
GCST000486
Genome-wide genotyping array
null
false
NA
false
2012-01-11
22,174,390
Rankinen T
2011-12-15
J Appl Physiol (1985)
www.ncbi.nlm.nih.gov/pubmed/22174390
Heritability of submaximal exercise heart rate response to exercise training is accounted for by nine SNPs.
Heart rate variability traits
472 European ancestry individuals from 99 families
NA
Illumina [320000]
2
heart rate
http://purl.obolibrary.org/obo/OBA_1001087
GCST001354
Genome-wide genotyping array
null
false
NA
false
2009-06-14
19,454,037
Arnett DK
2009-05-19
BMC Med Genet
www.ncbi.nlm.nih.gov/pubmed/19454037
Genome-wide association study identifies single-nucleotide polymorphism in KCNB1 associated with left ventricular mass in humans: the HyperGEN Study.
Left ventricular mass
101 European ancestry cases, 101 European ancestry controls
704 European ancestry individuals, 1,467 African American individuals
Affymetrix [96258]
2
left ventricular structural measurement
http://www.ebi.ac.uk/efo/EFO_0008205
GCST000407
Genome-wide genotyping array
null
false
NA
false
2013-11-29
23,722,424
Rietveld CA
2013-05-30
Science
www.ncbi.nlm.nih.gov/pubmed/23722424
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
Educational attainment
up to 101,069 European ancestry individuals
25,490 European ancestry individuals
Affymetrix, Illumina, Perlegen [up to 2309290] (imputed)
9
self reported educational attainment
http://www.ebi.ac.uk/efo/EFO_0004784
GCST002045
Genome-wide genotyping array
null
false
NA
false
2013-12-01
23,722,424
Rietveld CA
2013-05-30
Science
www.ncbi.nlm.nih.gov/pubmed/23722424
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
Educational attainment (college completion)
up to 126,559 European ancestry individuals
NA
Affymetrix, Illumina, Perlegen [up to 23218963] (imputed)
1
self reported educational attainment
http://www.ebi.ac.uk/efo/EFO_0004784
GCST002047
Genome-wide genotyping array
null
true
http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/GCST002001-GCST003000/GCST002047
false
2019-08-09
23,722,424
Rietveld CA
2013-05-30
Science
www.ncbi.nlm.nih.gov/pubmed/23722424
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
Educational attainment (years of education)
up to 126,559 European ancestry individuals
NA
Affymetrix, Illumina, Perlegen [up to 23218963] (imputed)
3
self reported educational attainment
http://www.ebi.ac.uk/efo/EFO_0004784
GCST008396
Genome-wide genotyping array
null
true
http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/GCST008001-GCST009000/GCST008396
false
2010-07-12
20,548,946
Ramdas WD
2010-06-10
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/20548946
A genome-wide association study of optic disc parameters.
Vertical cup-disc ratio
7,360 European ancestry individuals
4,455 European ancestry individuals
Affymetrix, Illumina [~ 2500000] (imputed)
9
optic disc size trait
http://purl.obolibrary.org/obo/OBA_VT0006216
GCST000700
Genome-wide genotyping array
null
false
NA
false
2010-07-12
20,548,946
Ramdas WD
2010-06-10
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/20548946
A genome-wide association study of optic disc parameters.
Optic disc parameters
7,360 European ancestry individuals
4,455 European ancestry individuals
Affymetrix, Illumina [~ 2500000] (imputed)
3
optic disc size trait
http://purl.obolibrary.org/obo/OBA_VT0006216
GCST000699
Genome-wide genotyping array
null
false
NA
false
2010-03-17
20,147,318
Qi L
2010-02-22
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/20147318
Genetic variants in ABO blood group region, plasma soluble E-selectin levels and risk of type 2 diabetes.
E-selectin levels
501 European ancestry type 2 diabetes female cases, 504 European ancestry female controls
518 European ancestry female individuals
Affymetrix [721316]
1
E-selectin amount
http://purl.obolibrary.org/obo/OBA_2050324
GCST000606
Genome-wide genotyping array
null
false
NA
false
2010-10-15
20,877,300
Perroud N
2010-09-28
Pharmacogenomics J
www.ncbi.nlm.nih.gov/pubmed/20877300
Genome-wide association study of increasing suicidal ideation during antidepressant treatment in the GENDEP project.
Suicidal ideation
706 European ancestry individuals
NA
Illumina [539199]
4
suicidal ideation
http://www.ebi.ac.uk/efo/EFO_0004320
GCST000816
Genome-wide genotyping array
null
false
NA
false
2011-01-03
21,072,201
Kim JH
2010-11-03
PLoS One
www.ncbi.nlm.nih.gov/pubmed/21072201
Genome-wide and follow-up studies identify CEP68 gene variants associated with risk of aspirin-intolerant asthma.
Aspirin intolerance in asthmatics
80 Korean ancestry cases, 100 Korean ancestry controls
163 Korean ancestry cases, 429 Korean ancestry controls
Illumina [96984]
0
Aspirin-induced asthma
http://purl.obolibrary.org/obo/HP_0012042
GCST000859
Genome-wide genotyping array
null
false
NA
false
2013-11-16
23,577,725
Naj AC
2013-05-01
Ann Hum Genet
www.ncbi.nlm.nih.gov/pubmed/23577725
Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
Age-related macular degeneration
1,207 European ancestry cases, 686 European ancestry controls
122 European ancestry cases, 86 European ancestry controls
Affymetrix [2543887] (imputed)
5
age-related macular degeneration
http://www.ebi.ac.uk/efo/EFO_0001365
GCST001986
Genome-wide genotyping array
null
false
NA
false
2013-11-16
23,577,725
Naj AC
2013-05-01
Ann Hum Genet
www.ncbi.nlm.nih.gov/pubmed/23577725
Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
Age-related macular degeneration (smoking status interaction)
548 European ancestry ever smoking cases, 278 European ancestry ever smoking controls, 346 European ancestry never smoking cases, 247 European ancestry never smoking controls
NA
Affymetrix [2543887] (imputed)
3
smoking status measurement, age-related macular degeneration
http://www.ebi.ac.uk/efo/EFO_0006527, http://www.ebi.ac.uk/efo/EFO_0001365
GCST001990
Genome-wide genotyping array
null
false
NA
true
2013-11-16
23,577,725
Naj AC
2013-05-01
Ann Hum Genet
www.ncbi.nlm.nih.gov/pubmed/23577725
Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
Age-related macular degeneration (extreme sampling)
720 European ancestry grade 5 cases, 513 European ancestry grade 1 controls
70 European ancestry grade 5 cases, 73 European ancestry grade 1 controls
Affymetrix [2543887] (imputed)
3
age-related macular degeneration
http://www.ebi.ac.uk/efo/EFO_0001365
GCST001987
Genome-wide genotyping array
null
false
NA
false
2010-12-16
21,082,022
Padmanabhan S
2010-10-28
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21082022
Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension.
Hypertension
1,621 extreme cases, 1,699 controls
19,845 extreme cases, 16,541 controls
Illumina [521220] (imputed)
1
hypertension
http://www.ebi.ac.uk/efo/EFO_0000537
GCST000849
Genome-wide genotyping array
null
false
NA
false
2010-03-06
20,169,177
Yang W
2010-02-12
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/20169177
Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus.
Systemic lupus erythematosus
314 Chinese ancestry cases, 1,484 Chinese ancestry controls
2,630 Chinese ancestry cases, 2,155 Chinese ancestry controls, 314 Thai ancestry cases, 519 Thai ancestry controls
Illumina [514221]
2
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000592
Genome-wide genotyping array
null
false
NA
false
2011-01-06
21,079,607
Wang K
2010-11-16
Mol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/21079607
A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa.
Anorexia nervosa
1,033 European ancestry cases, 3,733 European ancestry controls
NA
Illumina [~ 598000]
9
anorexia nervosa
http://purl.obolibrary.org/obo/MONDO_0005351
GCST000873
Genome-wide genotyping array
null
false
NA
false
2009-04-03
19,330,030
Thomas G
2009-03-29
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19330030
A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).
Breast cancer
1,145 European ancestry cases, 1,142 European ancestry controls
8,625 European ancestry cases, 9,657 European ancestry controls
Illumina [528173]
6
breast carcinoma
http://www.ebi.ac.uk/efo/EFO_0000305
GCST000365
Genome-wide genotyping array
null
false
NA
false
2010-02-12
20,100,581
Shen L
2010-01-22
Neuroimage
www.ncbi.nlm.nih.gov/pubmed/20100581
Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort.
Brain imaging
175 European ancestry Alzheimer cases, 354 European ancestry amnestic mild cognitive impairment cases, 204 European ancestry controls
NA
Illumina [530992]
12
neuroimaging measurement
http://www.ebi.ac.uk/efo/EFO_0004346
GCST000573
Genome-wide genotyping array
null
false
NA
false
2009-03-31
19,287,384
Kilpivaara O
2009-03-15
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19287384
A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.
Myeloproliferative neoplasms
324 European ancestry cases, 2,999 European ancestry controls
NA
Affymetrix [62775]
1
myeloproliferative disorder
http://www.ebi.ac.uk/efo/EFO_0004251
GCST000357
Genome-wide genotyping array
null
false
NA
false
2009-12-28
20,183,929
Nuinoon M
2009-11-19
Hum Genet
www.ncbi.nlm.nih.gov/pubmed/20183929
A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.
Beta thalassemia/hemoglobin E disease
235 Thai-Chinese ancestry mild cases, 383 Thai-Chinese ancestry severe cases
52 Indonesian ancestry mild cases, 122 Indonesian ancestry severe cases
Illumina [548094]
3
hemoglobin E disease
http://purl.obolibrary.org/obo/MONDO_0016243
GCST000532
Genome-wide genotyping array
null
false
NA
false
2009-09-29
19,736,353
Ising M
2009-09-01
Arch Gen Psychiatry
www.ncbi.nlm.nih.gov/pubmed/19736353
A genomewide association study points to multiple loci that predict antidepressant drug treatment outcome in depression.
Response to antidepressant treatment
700 European ancestry cases
832 European ancestry cases, 366 European ancestry controls
Illumina [389251]
0
response to antidepressant
http://purl.obolibrary.org/obo/GO_0036276
GCST000471
Genome-wide genotyping array
null
false
NA
false
2010-03-29
20,190,752
Dubois PC
2010-02-28
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/20190752
Multiple common variants for celiac disease influencing immune gene expression.
Celiac disease
4,533 European ancestry cases, 10,750 European ancestry controls
4,918 European ancestry cases, 5,684 European ancestry controls
Illumina [292387]
40
celiac disease
http://www.ebi.ac.uk/efo/EFO_0001060
GCST000612
Genome-wide genotyping array
null
true
http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/GCST000001-GCST001000/GCST000612
false
2009-12-10
19,915,576
Satake W
2009-11-15
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19915576
Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease.
Parkinson's disease
988 Japanese ancestry cases, 2,521 Japanese ancestry controls
933 Japanese ancestry cases, 15,753 Japanese ancestry controls
Illumina [435470]
4
Parkinson disease
http://purl.obolibrary.org/obo/MONDO_0005180
GCST000530
Genome-wide genotyping array
null
false
NA
false
2008-11-12
18,834,626
Dehghan A
2008-10-01
Lancet
www.ncbi.nlm.nih.gov/pubmed/18834626
Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.
Urate levels
11,847 European ancestry individuals
11,024 European ancestry individuals, 3,843 African American individuals
Affymetrix, Illumina [up to 530683]
3
urate measurement
http://www.ebi.ac.uk/efo/EFO_0004531
GCST000242
Genome-wide genotyping array
null
false
NA
false
2009-12-28
19,961,619
Castro-Giner F
2009-12-06
BMC Med Genet
www.ncbi.nlm.nih.gov/pubmed/19961619
A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS).
Atopy
75 European ancestry atopy and asthma cases, 75 European ancestry atopy only cases, 75 European ancestry controls
429 European ancestry atopy cases, 222 European ancestry controls
Illumina [NR]
1
atopy
http://www.ebi.ac.uk/efo/EFO_0002686
GCST000540
Genome-wide genotyping array
null
false
NA
false
2009-12-28
20,010,834
Repapi E
2009-12-13
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/20010834
Genome-wide association study identifies five loci associated with lung function.
Pulmonary function
20,288 European ancestry individuals
up to 54,276 European ancestry individuals
Affymetrix, Illumina [~ 2500000] (imputed)
7
pulmonary function measurement
http://www.ebi.ac.uk/efo/EFO_0003892
GCST000544
Genome-wide genotyping array
null
false
NA
false
2010-03-23
20,171,287
Stein JL
2010-02-17
Neuroimage
www.ncbi.nlm.nih.gov/pubmed/20171287
Voxelwise genome-wide association study (vGWAS).
Brain structure
740 European ancestry individuals
NA
Illumina [448293]
19
brain attribute
http://purl.obolibrary.org/obo/OBA_2045210
GCST000597
Genome-wide genotyping array
null
false
NA
false
2009-12-28
20,023,658
Mangold E
2009-12-20
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/20023658
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.
Orofacial clefts
399 European ancestry cases, 1,318 European ancestry controls
655 European ancestry triads
Illumina [521288]
6
cleft lip
http://www.ebi.ac.uk/efo/EFO_0003959
GCST000547
Genome-wide genotyping array
null
false
NA
false
2009-05-19
19,419,973
Sanna S
2009-05-06
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/19419973
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.
Bilirubin levels
4,300 Sardinian individuals
1,860 Sardinian individuals, 832 Old Order Amish individuals
Affymetrix [362129]
3
bilirubin measurement
http://www.ebi.ac.uk/efo/EFO_0004570
GCST000388
Genome-wide genotyping array
null
false
NA
false
2010-01-08
20,012,890
Ronald A
2009-12-13
Behav Genet
www.ncbi.nlm.nih.gov/pubmed/20012890
A genome-wide association study of social and non-social autistic-like traits in the general population using pooled DNA, 500 K SNP microarrays and both community and diagnosed autism replication samples.
Social and non-social autistic-like traits
1,462 European ancestry individuals
3,494 European ancestry individuals
Affymetrix [up to 435457]
0
behavior trait
http://purl.obolibrary.org/obo/OBA_VT0010442
GCST000543
Genome-wide genotyping array
null
false
NA
false
2009-05-07
18,937,294
Lasky-Su J
2008-12-05
Am J Med Genet B Neuropsychiatr Genet
www.ncbi.nlm.nih.gov/pubmed/18937294
Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder.
Attention deficit hyperactivity disorder (time to onset)
930 European ancestry trios
NA
Perlegen [429981]
11
attention deficit hyperactivity disorder
http://www.ebi.ac.uk/efo/EFO_0003888
GCST000280
Genome-wide genotyping array
null
false
NA
false
2010-05-24
20,418,890
Tobacco and Genetics Consortium
2010-04-25
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/20418890
Genome-wide meta-analyses identify multiple loci associated with smoking behavior.
Smoking behavior
Up to 74,035 European ancestry individuals
Up to 68,988 participants
Affymetrix, Illumina, Perlegen [~ 2500000] (imputed)
5
smoking behavior
http://www.ebi.ac.uk/efo/EFO_0004318
GCST000666
Genome-wide genotyping array
null
false
NA
false
2010-03-25
20,189,245
Han S
2010-02-25
Leuk Res
www.ncbi.nlm.nih.gov/pubmed/20189245
Genome-wide association study of childhood acute lymphoblastic leukemia in Korea.
Acute lymphoblastic leukemia (childhood)
45 Korean ancestry cases, 48 Korean ancestry controls
NA
Affymetrix [681931]
0
acute lymphoblastic leukemia
http://www.ebi.ac.uk/efo/EFO_0000220
GCST000608
Genome-wide genotyping array
null
false
NA
false
2008-11-12
18,849,994
Hillmer AM
2008-10-12
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/18849994
Susceptibility variants for male-pattern baldness on chromosome 20p11.
Male-pattern baldness
296 European ancestry cases, 347 European ancestry controls
319 European ancestry cases, 234 European ancestry controls
Illumina [531695]
1
androgenetic alopecia
http://www.ebi.ac.uk/efo/EFO_0004191
GCST000251
Genome-wide genotyping array
null
false
NA
false
2010-03-25
20,202,923
Bierut LJ
2010-03-02
Proc Natl Acad Sci U S A
www.ncbi.nlm.nih.gov/pubmed/20202923
A genome-wide association study of alcohol dependence.
Alcohol dependence
1,235 European ancestry cases, 1,433 European ancestry controls, 662 African American cases, 499 African American controls
219 European ancestry families, 35 African American families, 4 families, 487 European ancestry cases, 1,358 European ancestry controls
Illumina [948658]
0
alcohol dependence
http://purl.obolibrary.org/obo/MONDO_0007079
GCST000619
Genome-wide genotyping array
null
false
NA
false
2010-03-09
20,154,341
Lange LA
2010-02-13
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/20154341
Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults.
Homocysteine levels
1,786 Filipino ancestry female individuals
1,679 Filipino ancestry offspring
Affymetrix [2073674] (imputed)
1
homocysteine measurement
http://www.ebi.ac.uk/efo/EFO_0004578
GCST000594
Genome-wide genotyping array
null
false
NA
false
2011-04-13
21,448,238
Ligthart L
2011-03-30
Eur J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/21448238
Meta-analysis of genome-wide association for migraine in six population-based European cohorts.
Migraine
2,116 European ancestry cases, 7,318 European ancestry controls, 330 Dutch founder cases, 1,216 Dutch founder controls
2,957 European ancestry cases, 5,774 European ancestry controls
Affymetrix, Illumina, Perlegen [~ 2500000] (imputed)
2
migraine disorder
http://purl.obolibrary.org/obo/MONDO_0005277
GCST001019
Genome-wide genotyping array
null
false
NA
false
2009-11-05
19,820,699
Benyamin B
2009-10-11
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19820699
Common variants in TMPRSS6 are associated with iron status and erythrocyte volume.
Iron status biomarkers
4,818 European ancestry individuals
3,470 European ancestry individuals
Illumina, Perlegen [427037]
4
iron biomarker measurement
http://www.ebi.ac.uk/efo/EFO_0004461
GCST000505
Genome-wide genotyping array
null
false
NA
false
2011-05-25
21,502,966
Weber F
2011-04-19
Pharmacogenomics J
www.ncbi.nlm.nih.gov/pubmed/21502966
Single-nucleotide polymorphisms in HLA- and non-HLA genes associated with the development of antibodies to interferon-β therapy in multiple sclerosis patients.
Response to interferon beta therapy
178 European ancestry antibody-positive individuals, 184 European ancestry antibody-negative individuals
350 European ancestry antibody-positive individuals, 468 European ancestry antibody-negative individuals
Illumina [~ 317000]
2
response to interferon-beta
http://purl.obolibrary.org/obo/GO_0035456
GCST001043
Genome-wide genotyping array
null
false
NA
false
2009-02-28
19,219,042
Zheng W
2009-02-15
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19219042
Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1.
Breast cancer
1,505 Chinese ancestry cases, 1,522 Chinese ancestry controls
5,026 Chinese ancestry cases, 2,476 Chinese ancestry controls, 1,591 European ancestry cases, 1,466 European ancestry controls
Affymetrix [up to 607728]
1
breast carcinoma
http://www.ebi.ac.uk/efo/EFO_0000305
GCST000343
Genome-wide genotyping array
null
false
NA
false
2012-02-08
22,229,870
Karns R
2012-01-09
Ann Hum Genet
www.ncbi.nlm.nih.gov/pubmed/22229870
Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia.
Uric acid levels
1,300 European ancestry individuals
NA
Affymetrix [2241249] (imputed)
6
uric acid measurement
http://www.ebi.ac.uk/efo/EFO_0004761
GCST001374
Genome-wide genotyping array
null
false
NA
false
2013-04-30
21,519,539
Cho SC
2011-02-25
Psychiatry Investig
www.ncbi.nlm.nih.gov/pubmed/21519539
Genome-wide association scan of korean autism spectrum disorders with language delay: a preliminary study.
Autism spectrum disorders (language delay)
42 Korean ancestry male cases and their parental controls
NA
Affymetrix [331095]
0
autism spectrum disorder
http://www.ebi.ac.uk/efo/EFO_0003756
GCST000991
Genome-wide genotyping array
null
false
NA
false
2009-02-26
19,165,232
Otowa T
2009-01-23
J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/19165232
Genome-wide association study of panic disorder in the Japanese population.
Panic disorder
200 Japanese ancestry cases, 200 Japanese ancestry controls
NA
Affymetrix [253903]
17
panic disorder
http://www.ebi.ac.uk/efo/EFO_0004262
GCST000320
Genome-wide genotyping array
null
false
NA
false
2011-02-23
21,228,123
Ochi H
2011-01-12
J Gen Virol
www.ncbi.nlm.nih.gov/pubmed/21228123
IL-28B predicts response to chronic hepatitis C therapy--fine-mapping and replication study in Asian populations.
Response to hepatitis C treatment
2,101 East Asian ancestry cases, 282 Japanese ancestry controls
NA
Illumina [510537]
1
chronic hepatitis C virus infection
http://www.ebi.ac.uk/efo/EFO_0004220
GCST000944
Genome-wide genotyping array
null
false
NA
false
2012-01-25
20,686,565
Teslovich TM
2010-08-05
Nature
www.ncbi.nlm.nih.gov/pubmed/20686565
Biological, clinical and population relevance of 95 loci for blood lipids.
Triglycerides
96,598 European ancestry individuals
NA
Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)
32
triglyceride measurement
http://www.ebi.ac.uk/efo/EFO_0004530
GCST000758
Genome-wide genotyping array
null
true
http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/GCST000001-GCST001000/GCST000758
false
2012-01-25
20,686,565
Teslovich TM
2010-08-05
Nature
www.ncbi.nlm.nih.gov/pubmed/20686565
Biological, clinical and population relevance of 95 loci for blood lipids.
Cholesterol, total
100,184 European ancestry individuals
NA
Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)
52
total cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004574
GCST000760
Genome-wide genotyping array
null
true
http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/GCST000001-GCST001000/GCST000760
false
2012-01-25
20,686,565
Teslovich TM
2010-08-05
Nature
www.ncbi.nlm.nih.gov/pubmed/20686565
Biological, clinical and population relevance of 95 loci for blood lipids.
LDL cholesterol
95,454 European ancestry individuals
NA
Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)
37
low density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004611
GCST000759
Genome-wide genotyping array
null
true
http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/GCST000001-GCST001000/GCST000759
false
2012-01-25
20,686,565
Teslovich TM
2010-08-05
Nature
www.ncbi.nlm.nih.gov/pubmed/20686565
Biological, clinical and population relevance of 95 loci for blood lipids.
HDL cholesterol
99,900 European ancestry individuals
NA
Affymetrix, Illumina, Perlegen [~ 2600000] (imputed)
47
high density lipoprotein cholesterol measurement
http://www.ebi.ac.uk/efo/EFO_0004612
GCST000755
Genome-wide genotyping array
null
true
http://ftp.ebi.ac.uk/pub/databases/gwas/summary_statistics/GCST000001-GCST001000/GCST000755
false
2011-01-15
21,203,500
Lauc G
2010-12-23
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/21203500
Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1α as a master regulator of plasma protein fucosylation.
N-glycan levels
2,559 European ancestry individuals
NA
Illumina [~ 300000]
8
N-glycan measurement
http://www.ebi.ac.uk/efo/EFO_0004999
GCST000925
Genome-wide genotyping array
null
false
NA
false
2011-02-03
21,211,648
Ege MJ
2011-01-01
J Allergy Clin Immunol
www.ncbi.nlm.nih.gov/pubmed/21211648
Gene-environment interaction for childhood asthma and exposure to farming in Central Europe.
Asthma or atopy (farm exposure interaction)
850 European asthmatic child cases, 348 European atopic child cases, 510 European child controls
NA
Illumina [2500000] (imputed)
0
farm exposure measurement, asthma
http://www.ebi.ac.uk/efo/EFO_0008362, http://purl.obolibrary.org/obo/MONDO_0004979
GCST000934
Genome-wide genotyping array
null
false
NA
true
2009-07-24
19,578,179
Teichert M
2009-07-04
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/19578179
A genome-wide association study of acenocoumarol maintenance dosage.
Acenocoumarol maintenance dosage
1,451 European ancestry individuals
287 individuals
Illumina [~ 550000]
4
response to anticoagulant
http://purl.obolibrary.org/obo/GO_0061476
GCST000436
Genome-wide genotyping array
null
false
NA
false
2009-05-11
19,404,256
Wang K
2009-04-28
Nature
www.ncbi.nlm.nih.gov/pubmed/19404256
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
Autism
3,101 European ancestry individuals from 780 families, 1,204 European ancestry cases, 6,491 European ancestry controls
1,390 European ancestry individuals from 447 families, 108 European ancestry cases, 540 European ancestry controls
Illumina [474019]
1
autism
http://www.ebi.ac.uk/efo/EFO_0003758
GCST000382
Genome-wide genotyping array
null
false
NA
false
2008-06-16
18,204,446
Harley JB
2008-01-20
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/18204446
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.
Systemic lupus erythematosus
720 European ancestry female cases, 2,337 European ancestry female controls
1,846 European ancestry female cases, 1,825 European ancestry female controls
Illumina [317501]
6
systemic lupus erythematosus
http://purl.obolibrary.org/obo/MONDO_0007915
GCST000142
Genome-wide genotyping array
null
false
NA
false
2011-12-20
22,120,009
Broderick P
2011-11-27
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/22120009
Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk.
Multiple myeloma
1,675 European ancestry cases, 5,903 European ancestry controls
169 European ancestry cases, 927 European ancestry controls
Illumina [422839]
3
multiple myeloma
http://www.ebi.ac.uk/efo/EFO_0001378
GCST001331
Genome-wide genotyping array
null
false
NA
false
2013-09-05
19,744,961
Hazra A
2009-09-10
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/19744961
Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.
Folate pathway vitamin levels
3,305 European ancestry females, 1,458 European ancestry males
NA
Affymetrix, Illumina [~ 2500000] (imputed)
9
vitamin measurement
http://www.ebi.ac.uk/efo/EFO_0004729
GCST000483
Genome-wide genotyping array
null
false
NA
false
2008-10-14
18,760,390
Huyghe JR
2008-09-12
Am J Hum Genet
www.ncbi.nlm.nih.gov/pubmed/18760390
Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait.
Hearing impairment
1,081 European ancestry individuals from 200 sibships
NA
Affymetrix [169154]
0
hearing loss
http://www.ebi.ac.uk/efo/EFO_0004238
GCST000230
Genome-wide genotyping array
null
false
NA
false
2011-01-16
21,151,128
Chen ZJ
2010-12-12
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/21151128
Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.
Polycystic ovary syndrome
744 Han Chinese ancestry cases, 895 Han Chinese ancestry controls
3,338 Han Chinese ancestry cases, 5,792 Han Chinese ancestry controls
Affymetrix [611633]
5
polycystic ovary syndrome
http://www.ebi.ac.uk/efo/EFO_0000660
GCST000914
Genome-wide genotyping array
null
false
NA
false
2010-11-23
20,932,310
Han MR
2010-10-08
BMC Neurol
www.ncbi.nlm.nih.gov/pubmed/20932310
Genome-wide association reveals genetic effects on human Aβ42 and τ protein levels in cerebrospinal fluids: a case control study.
Cerebrospinal T-tau levels
172 European ancestry Alzheimer's disease cases, 109 European ancestry mild cognitive impairment cases, 109 European ancestry controls
NA
Illumina [498205]
5
t-tau measurement
http://www.ebi.ac.uk/efo/EFO_0004760
GCST000826
Genome-wide genotyping array
null
false
NA
false
2010-11-23
20,932,310
Han MR
2010-10-08
BMC Neurol
www.ncbi.nlm.nih.gov/pubmed/20932310
Genome-wide association reveals genetic effects on human Aβ42 and τ protein levels in cerebrospinal fluids: a case control study.
Cerebrospinal P-tau181p levels
172 European ancestry Alzheimer's disease cases, 109 European ancestry mild cognitive impairment cases, 109 European ancestry controls
NA
Illumina [498205]
5
p-tau measurement
http://www.ebi.ac.uk/efo/EFO_0004763
GCST000825
Genome-wide genotyping array
null
false
NA
false
2010-11-23
20,932,310
Han MR
2010-10-08
BMC Neurol
www.ncbi.nlm.nih.gov/pubmed/20932310
Genome-wide association reveals genetic effects on human Aβ42 and τ protein levels in cerebrospinal fluids: a case control study.
Cerebrospinal fluid AB1-42 levels
172 European ancestry Alzheimer's disease cases, 109 European ancestry mild cognitive impairment cases, 109 European ancestry controls
NA
Illumina [498205]
7
beta-amyloid 1-42 measurement
http://www.ebi.ac.uk/efo/EFO_0004670
GCST000827
Genome-wide genotyping array
null
false
NA
false
2008-09-12
18,073,375
Duggan D
2007-12-19
J Natl Cancer Inst
www.ncbi.nlm.nih.gov/pubmed/18073375
Two genome-wide association studies of aggressive prostate cancer implicate putative prostate tumor suppressor gene DAB2IP.
Prostate cancer
1,235 European ancestry cases, 1,599 European ancestry controls
1,032 European ancestry cases, 571 European ancestry controls, 210 African American cases, 346 African American controls
Affymetrix, Illumina [60275]
0
prostate carcinoma
http://www.ebi.ac.uk/efo/EFO_0001663
GCST000128
Genome-wide genotyping array
null
false
NA
false
2008-10-14
18,776,929
Liu YZ
2008-09-08
PLoS One
www.ncbi.nlm.nih.gov/pubmed/18776929
Identification of PLCL1 gene for hip bone size variation in females in a genome-wide association study.
Hip bone size
501 European ancestry female individuals, 499 European ancestry male individuals
1,216 European ancestry female individuals
Affymetrix [306823]
1
hip bone size
http://purl.obolibrary.org/obo/OBA_2050103
GCST000229
Genome-wide genotyping array
null
false
NA
false
2008-06-16
18,075,462
Suzuki S
2007-11-17
Pharmacogenet Genomics
www.ncbi.nlm.nih.gov/pubmed/18075462
A novel genetic marker for coronary spasm in women from a genome-wide single nucleotide polymorphism analysis.
Coronary spasm
50 Japanese ancestry female cases, 50 Japanese ancestry female controls
151 Japanese ancestry female cases, 160 Japanese ancestry female controls
Affymetrix [97552]
1
Coronary Vasospasm
http://www.ebi.ac.uk/efo/EFO_0004225
GCST000125
Genome-wide genotyping array
null
false
NA
false
2009-05-07
19,412,176
Hallmayer J
2009-05-03
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/19412176
Narcolepsy is strongly associated with the T-cell receptor alpha locus.
Narcolepsy
807 European ancestry cases, 1,074 European ancestry controls
363 European ancestry cases, 355 European ancestry controls, 133 African American cases, 144 African American controls, 561 Asian ancestry cases, 605 Asian ancestry controls
Affymetrix [549596]
1
narcolepsy-cataplexy syndrome
http://purl.obolibrary.org/obo/MONDO_0016158
GCST000385
Genome-wide genotyping array
null
false
NA
false