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stringlengths
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1.1k
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stringlengths
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140
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int64
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12.1k
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stringlengths
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1.42k
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2.28k
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stringlengths
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stringclasses
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SUMMARY STATS LOCATION
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bool
2 classes
2017-08-09
28,470,677
Tang H
2017-05-03
Int J Cancer
www.ncbi.nlm.nih.gov/pubmed/28470677
Genetic polymorphisms associated with pancreatic cancer survival: a genome-wide association study.
Survival in pancreatic cancer
868 European ancestry cases
820 European ancestry cases
NR [7738399] (imputed)
61
exocrine pancreatic carcinoma, overall survival
http://purl.obolibrary.org/obo/MONDO_0005192, http://www.ebi.ac.uk/efo/EFO_0000638
GCST004485
Genome-wide genotyping array
null
false
NA
false
2017-07-18
28,492,228
Parks T
2017-05-11
Nat Commun
www.ncbi.nlm.nih.gov/pubmed/28492228
Association between a common immunoglobulin heavy chain allele and rheumatic heart disease risk in Oceania.
Rheumatic heart disease
767 Oceanian ancestry cases, 1,462 Oceanian ancestry controls, 168 Fijian Indian cases, 151 Fijian Indian controls, 71 mixed and other ancestry cases, 236 mixed and other ancestry controls
null
Illumina [5356509] (imputed)
2
rheumatic heart disease
http://purl.obolibrary.org/obo/MONDO_0006955
GCST004366
Genome-wide genotyping array
null
false
NA
false
2017-07-19
28,494,655
Duncan L
2017-05-12
Am J Psychiatry
www.ncbi.nlm.nih.gov/pubmed/28494655
Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa.
Anorexia nervosa
3,495 European ancestry cases, 10,982 European ancestry controls
NA
Illumina [10641224] (imputed)
6
anorexia nervosa
http://purl.obolibrary.org/obo/MONDO_0005351
GCST004367
Genome-wide genotyping array
null
false
NA
false
2017-07-27
28,461,288
Yan Q
2017-05-01
Eur Respir J
www.ncbi.nlm.nih.gov/pubmed/28461288
A meta-analysis of genome-wide association studies of asthma in Puerto Ricans.
Asthma
1,666 Puerto Rican child cases, 478 Puerto Rican adult cases, 1,505 Puerto Rican child controls, 1,388 Puerto Rican adult controls
NA
Affymetrix, Illumina [7485508] (imputed)
3
asthma
http://purl.obolibrary.org/obo/MONDO_0004979
GCST004390
Genome-wide genotyping array
null
false
NA
false
2017-09-14
28,468,790
Agopian AJ
2017-06-01
Circ Cardiovasc Genet
www.ncbi.nlm.nih.gov/pubmed/28468790
Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.
Conotruncal heart defects (inherited effects)
483 European ancestry trios, 406 European ancestry cases, 2,976 European ancestry controls, 355 European and other ancestry trios, 187 non-European ancestry trios.
NA
Illumina [at least 4756722] (imputed)
10
conotruncal heart malformations
http://purl.obolibrary.org/obo/MONDO_0016581
GCST004720
Genome-wide genotyping array
null
false
NA
false
2017-09-14
28,468,790
Agopian AJ
2017-06-01
Circ Cardiovasc Genet
www.ncbi.nlm.nih.gov/pubmed/28468790
Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.
Left ventricular obstructive tract defect (inherited effect)
247 European ancestry trios, 70 non-European ancestry trios, 192 European and other ancestry trios
NA
Illumina [at least 4483243] (imputed)
15
congenital left-sided heart lesions
http://purl.obolibrary.org/obo/MONDO_0005584
GCST004719
Genome-wide genotyping array
null
false
NA
false
2017-09-14
28,468,790
Agopian AJ
2017-06-01
Circ Cardiovasc Genet
www.ncbi.nlm.nih.gov/pubmed/28468790
Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.
Conotruncal heart defects (maternal effects)
up to 838 European ancestry trios
NA
Illumina [at least 4756722] (imputed)
22
conotruncal heart malformations
http://purl.obolibrary.org/obo/MONDO_0016581
GCST004723
Genome-wide genotyping array
null
false
NA
false
2017-09-14
28,468,790
Agopian AJ
2017-06-01
Circ Cardiovasc Genet
www.ncbi.nlm.nih.gov/pubmed/28468790
Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.
Left ventricular obstructive tract defect (maternal effect)
up to 439 European ancestry trios
NA
Illumina [at least 4756722] (imputed)
9
congenital left-sided heart lesions
http://purl.obolibrary.org/obo/MONDO_0005584
GCST004722
Genome-wide genotyping array
null
false
NA
false
2017-09-14
28,468,790
Agopian AJ
2017-06-01
Circ Cardiovasc Genet
www.ncbi.nlm.nih.gov/pubmed/28468790
Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.
Congenital heart disease (inherited effect)
1,119 European ancestry trios, 406 European ancestry cases, 2,976 European ancestry controls, 415 non-European ancestry trios
NA
Illumina [at least 4756772] (imputed)
10
congenital heart disease
http://purl.obolibrary.org/obo/MONDO_0005453
GCST004718
Genome-wide genotyping array
null
false
NA
false
2017-09-14
28,468,790
Agopian AJ
2017-06-01
Circ Cardiovasc Genet
www.ncbi.nlm.nih.gov/pubmed/28468790
Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.
Congenital heart disease (maternal effect)
1,119 European ancestry trios
NA
Illumina [at least 4756722] (imputed)
20
congenital heart disease
http://purl.obolibrary.org/obo/MONDO_0005453
GCST004721
Genome-wide genotyping array
null
false
NA
false
2017-07-14
28,472,463
Mullin BH
2017-05-04
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/28472463
Genome-wide association study meta-analysis for quantitative ultrasound parameters of bone identifies five novel loci for broadband ultrasound attenuation.
Bone ultrasound measurement (velocity of sound)
1,268 whole genome sequenced European ancestry women, 8,880 European ancestry women, 6,479 European ancestry men
NA
Illumina [11973598] (imputed)
21
bone quantitative ultrasound measurement
http://www.ebi.ac.uk/efo/EFO_0004514
GCST004350
Genome-wide genotyping array
null
false
NA
false
2017-07-14
28,472,463
Mullin BH
2017-05-04
Hum Mol Genet
www.ncbi.nlm.nih.gov/pubmed/28472463
Genome-wide association study meta-analysis for quantitative ultrasound parameters of bone identifies five novel loci for broadband ultrasound attenuation.
Bone ultrasound measurement (broadband ultrasound attenuation)
1,268 whole genome sequenced European ancestry women, 8,880 European ancestry women, 6,479 European ancestry men
NA
Illumina [11973598] (imputed)
28
bone quantitative ultrasound measurement
http://www.ebi.ac.uk/efo/EFO_0004514
GCST004351
Genome-wide genotyping array
null
false
NA
false
2017-08-16
28,540,026
Anney RJL
2017-05-22
Mol Autism
www.ncbi.nlm.nih.gov/pubmed/28540026
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
Autism spectrum disorder or schizophrenia
schizophrenia cases and controls (see Ripke, 2014), up to 6,197 European ancestry ASD cases, up to 7,377 European ancestry controls, up to 1,190 ASD cases, up to 1,190 controls
NA
Affymetrix, Illumina [NR]
301
schizophrenia, autism spectrum disorder
http://purl.obolibrary.org/obo/MONDO_0005090, http://purl.obolibrary.org/obo/MONDO_0005258
GCST004521
Genome-wide genotyping array
null
false
NA
false
2017-08-16
28,540,026
Anney RJL
2017-05-22
Mol Autism
www.ncbi.nlm.nih.gov/pubmed/28540026
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
Autism spectrum disorder
6,197 European ancestry cases, 7,377 European ancestry controls, 1,190 cases, 1,190 controls
8,266 European ancestry cases, 147,562 European ancestry controls, 886 cases, 1,105 controls
Affymetrix, Illumina [6695386] (imputed)
3
autism spectrum disorder
http://purl.obolibrary.org/obo/MONDO_0005258
GCST004520
Genome-wide genotyping array
null
false
NA
false
2017-07-21
28,533,516
Cantor RM
2017-05-23
Mol Psychiatry
www.ncbi.nlm.nih.gov/pubmed/28533516
ASD restricted and repetitive behaviors associated at 17q21.33: genes prioritized by expression in fetal brains.
Restricted and repetitive behaviours in autism spectrum disorder
4,664 European ancestry children from 2,145 families
NA
Illumina [at least 3972813] (imputed)
1
behavior trait
http://purl.obolibrary.org/obo/OBA_VT0010442
GCST004377
Genome-wide genotyping array
null
false
NA
false
2017-09-14
28,604,732
Wang Z
2017-06-12
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/28604732
Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.
Testicular germ cell tumor
3,558 European ancestry cases, 13,970 European ancestry controls
NA
Illumina [9210350] (imputed)
37
testicular germ cell tumor
http://purl.obolibrary.org/obo/MONDO_0010108
GCST004713
Genome-wide genotyping array
null
false
NA
false
2017-08-21
28,502,801
Law MH
2017-05-11
J Invest Dermatol
www.ncbi.nlm.nih.gov/pubmed/28502801
Genome-Wide Association Shows that Pigmentation Genes Play a Role in Skin Aging.
Skin aging (microtopography measurement)
5,087 individuals
NA
Illumina [at least 233546] (imputed)
14
aging rate
http://purl.obolibrary.org/obo/OBA_0005494
GCST004574
Genome-wide genotyping array
null
false
NA
false
2017-08-11
28,520,984
Saccone NL
2017-05-17
Nicotine Tob Res
www.ncbi.nlm.nih.gov/pubmed/28520984
Genome-wide association study of heavy smoking and daily/nondaily smoking in the Hispanic Community Health Study / Study of Latinos (HCHS/SOL).
Smoking status (daily vs non-daily)
778 Hispanic non-daily smoker cases, 1,786 Hispanic daily smoker controls
85 Hispanic non-daily smokers, 343 Hispanic daily smokers, 158 African American non-daily smokers, 1,106 African American daily smokers, 232 European ancestry non-daily smokers, 1,316 European ancestry daily smokers
Illumina [at least 2400000] (imputed)
0
smoking behavior trait
http://purl.obolibrary.org/obo/OBA_2050116
GCST004511
Genome-wide genotyping array
null
false
NA
false
2017-08-11
28,520,984
Saccone NL
2017-05-17
Nicotine Tob Res
www.ncbi.nlm.nih.gov/pubmed/28520984
Genome-wide association study of heavy smoking and daily/nondaily smoking in the Hispanic Community Health Study / Study of Latinos (HCHS/SOL).
Smoking status (heavy vs light)
1,929 Hispanic heavy smoker cases, 3,156 Hispanic light smoker controls
NA
Illumina [~ 11400000] (imputed)
2
smoking behavior trait
http://purl.obolibrary.org/obo/OBA_2050116
GCST004512
Genome-wide genotyping array
null
false
NA
false
2017-08-11
28,520,984
Saccone NL
2017-05-17
Nicotine Tob Res
www.ncbi.nlm.nih.gov/pubmed/28520984
Genome-wide association study of heavy smoking and daily/nondaily smoking in the Hispanic Community Health Study / Study of Latinos (HCHS/SOL).
Smoking status (current vs former)
2,564 Hispanic current smoker cases, 2,555 Hispanic former smoker controls
NA
Illumina [at least 2400000] (imputed)
0
smoking status measurement
http://www.ebi.ac.uk/efo/EFO_0006527
GCST004513
Genome-wide genotyping array
null
false
NA
false
2017-08-11
28,520,984
Saccone NL
2017-05-17
Nicotine Tob Res
www.ncbi.nlm.nih.gov/pubmed/28520984
Genome-wide association study of heavy smoking and daily/nondaily smoking in the Hispanic Community Health Study / Study of Latinos (HCHS/SOL).
Smoking status (ever vs never smokers)
5,119 Hispanic ever smoker cases, 7,616 Hispanic never smoker controls
NA
Illumina [at least 2400000] (imputed)
0
smoking status measurement
http://www.ebi.ac.uk/efo/EFO_0006527
GCST004514
Genome-wide genotyping array
null
false
NA
false
2017-08-10
28,443,625
Justice AE
2017-04-26
Nat Commun
www.ncbi.nlm.nih.gov/pubmed/28443625
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
BMI (smoking interaction)
98,173 European ancestry women, 64,373 European ancestry men, 5,829 European ancestry individuals, 10,500 African American/Afro-Caribbean ancestry women, 2,706 African American/Afro-Caribbean ancestry men, 1,030 Indian Asian ancestry women, 7,648 Indian Asian ancestry men, 1,793 Filipino ancestry women, 2,944 Hispanic/...
21,496 European ancestry women, 24,385 European ancestry men, 118,364 European ancestry individuals, 2,326 African American/Afro-Caribbean ancestry women, 855 African American/Afro-Caribbean ancestry men
Affymetrix, Illumina, Perlegen [up to 2800000] (imputed)
2
smoking behavior, body mass index
http://www.ebi.ac.uk/efo/EFO_0004318, http://www.ebi.ac.uk/efo/EFO_0004340
GCST004496
Genome-wide genotyping array
null
false
NA
true
2017-08-10
28,443,625
Justice AE
2017-04-26
Nat Commun
www.ncbi.nlm.nih.gov/pubmed/28443625
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
Waist circumference adjusted for BMI (adjusted for smoking behaviour)
97,400 European ancestry women, 63,892 European ancestry men, 5,829 European ancestry individuals, 10,500 African American/Afro-Caribbean ancestry women, 2,706 African American/Afro-Caribbean ancestry men, 1,030 Indian Asian ancestry women, 7,648 Indian Asian ancestry men, 1,793 Filipino ancestry women, 2,944 Hispanic/...
21,496 European ancestry women, 24,385 European ancestry men, 118,364 European ancestry individuals, 2,326 African American/Afro-Caribbean ancestry women, 855 African American/Afro-Caribbean ancestry men
Affymetrix, Illumina, Perlegen [up to 2800000] (imputed)
140
smoking behavior, BMI-adjusted waist circumference
http://www.ebi.ac.uk/efo/EFO_0004318, http://www.ebi.ac.uk/efo/EFO_0007789
GCST004500
Genome-wide genotyping array
null
false
NA
false
2017-08-10
28,443,625
Justice AE
2017-04-26
Nat Commun
www.ncbi.nlm.nih.gov/pubmed/28443625
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour)
95,362 European ancestry women, 62,085 European ancestry men, 5,829 European ancestry individuals, 10,500 African American/Afro-Caribbean ancestry women, 2,706 African American/Afro-Caribbean ancestry men, 1,030 Indian Asian ancestry women, 7,648 Indian Asian ancestry men, 1,793 Filipino ancestry women, 2,944 Hispanic/...
21,496 European ancestry women, 24,385 European ancestry men, 118,364 European ancestry individuals, 2,326 African American/Afro-Caribbean ancestry women, 855 African American/Afro-Caribbean ancestry men
Affymetrix, Illumina, Perlegen [up to 2800000] (imputed)
116
smoking behavior, BMI-adjusted waist-hip ratio
http://www.ebi.ac.uk/efo/EFO_0004318, http://www.ebi.ac.uk/efo/EFO_0007788
GCST004505
Genome-wide genotyping array
null
false
NA
false
2017-08-10
28,443,625
Justice AE
2017-04-26
Nat Commun
www.ncbi.nlm.nih.gov/pubmed/28443625
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
Waist-to-hip ratio adjusted for BMI (smoking interaction)
95,362 European ancestry women, 62,085 European ancestry men, 5,829 European ancestry individuals, 10,500 African American/Afro-Caribbean ancestry women, 2,706 African American/Afro-Caribbean ancestry men, 1,030 Indian Asian ancestry women, 7,648 Indian Asian ancestry men, 1,793 Filipino ancestry women, 2,944 Hispanic/...
21,496 European ancestry women, 24,385 European ancestry men, 118,364 European ancestry individuals, 2,326 African American/Afro-Caribbean ancestry women, 855 African American/Afro-Caribbean ancestry men
Affymetrix, Illumina, Perlegen [up to 2800000] (imputed)
2
smoking behavior, BMI-adjusted waist-hip ratio
http://www.ebi.ac.uk/efo/EFO_0004318, http://www.ebi.ac.uk/efo/EFO_0007788
GCST004506
Genome-wide genotyping array
null
false
NA
true
2017-08-10
28,443,625
Justice AE
2017-04-26
Nat Commun
www.ncbi.nlm.nih.gov/pubmed/28443625
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
Waist circumference adjusted for BMI (smoking interaction)
97,400 European ancestry women, 63,892 European ancestry men, 5,829 European ancestry individuals, 10,500 African American/Afro-Caribbean ancestry women, 2,706 African American/Afro-Caribbean ancestry men, 1,030 Indian Asian ancestry women, 7,648 Indian Asian ancestry men, 1,793 Filipino ancestry women, 2,944 Hispanic/...
21,496 European ancestry women, 24,385 European ancestry men, 118,364 European ancestry individuals, 2,326 African American/Afro-Caribbean ancestry women, 855 African American/Afro-Caribbean ancestry men
Affymetrix, Illumina, Perlegen [up to 2800000] (imputed)
2
smoking behavior, BMI-adjusted waist circumference
http://www.ebi.ac.uk/efo/EFO_0004318, http://www.ebi.ac.uk/efo/EFO_0007789
GCST004502
Genome-wide genotyping array
null
false
NA
true
2017-08-10
28,443,625
Justice AE
2017-04-26
Nat Commun
www.ncbi.nlm.nih.gov/pubmed/28443625
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)
97,400 European ancestry women, 63,892 European ancestry men, 5,829 European ancestry individuals, 10,500 African American/Afro-Caribbean ancestry women, 2,706 African American/Afro-Caribbean ancestry men, 1,030 Indian Asian ancestry women, 7,648 Indian Asian ancestry men, 1,793 Filipino ancestry women, 2,944 Hispanic/...
21,496 European ancestry women, 24,385 European ancestry men, 118,364 European ancestry individuals, 2,326 African American/Afro-Caribbean ancestry women, 855 African American/Afro-Caribbean ancestry men
Affymetrix, Illumina, Perlegen [up to 2800000] (imputed)
135
smoking behavior, BMI-adjusted waist circumference
http://www.ebi.ac.uk/efo/EFO_0004318, http://www.ebi.ac.uk/efo/EFO_0007789
GCST004501
Genome-wide genotyping array
null
false
NA
true
2017-08-10
28,443,625
Justice AE
2017-04-26
Nat Commun
www.ncbi.nlm.nih.gov/pubmed/28443625
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
Waist-to-hip ratio adjusted for BMI (joint analysis main effects and smoking interaction)
95,362 European ancestry women, 62,085 European ancestry men, 5,829 European ancestry individuals, 10,500 African American/Afro-Caribbean ancestry women, 2,706 African American/Afro-Caribbean ancestry men, 1,030 Indian Asian ancestry women, 7,648 Indian Asian ancestry men, 1,793 Filipino ancestry women, 2,944 Hispanic/...
21,496 European ancestry women, 24,385 European ancestry men, 118,364 European ancestry individuals, 2,326 African American/Afro-Caribbean ancestry women, 855 African American/Afro-Caribbean ancestry men
Affymetrix, Illumina, Perlegen [up to 2800000] (imputed)
45
smoking behavior, BMI-adjusted waist-hip ratio
http://www.ebi.ac.uk/efo/EFO_0004318, http://www.ebi.ac.uk/efo/EFO_0007788
GCST004507
Genome-wide genotyping array
null
false
NA
true
2017-08-10
28,443,625
Justice AE
2017-04-26
Nat Commun
www.ncbi.nlm.nih.gov/pubmed/28443625
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
BMI (adjusted for smoking behaviour)
98,173 European ancestry women, 64,373 European ancestry men, 5,829 European ancestry individuals, 10,500 African American/Afro-Caribbean ancestry women, 2,706 African American/Afro-Caribbean ancestry men, 1,030 Indian Asian ancestry women, 7,648 Indian Asian ancestry men, 1,793 Filipino ancestry women, 2,944 Hispanic/...
21,496 European ancestry women, 24,385 European ancestry men, 118,364 European ancestry individuals, 2,326 African American/Afro-Caribbean ancestry women, 855 African American/Afro-Caribbean ancestry men
Affymetrix, Illumina, Perlegen [up to 2800000] (imputed)
145
smoking behavior, body mass index
http://www.ebi.ac.uk/efo/EFO_0004318, http://www.ebi.ac.uk/efo/EFO_0004340
GCST004495
Genome-wide genotyping array
null
false
NA
false
2017-08-10
28,443,625
Justice AE
2017-04-26
Nat Commun
www.ncbi.nlm.nih.gov/pubmed/28443625
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
Body mass index (joint analysis main effects and smoking interaction)
98,173 European ancestry women, 64,373 European ancestry men, 5,829 European ancestry individuals, 10,500 African American/Afro-Caribbean ancestry women, 2,706 African American/Afro-Caribbean ancestry men, 1,030 Indian Asian ancestry women, 7,648 Indian Asian ancestry men, 1,793 Filipino ancestry women, 2,944 Hispanic/...
21,496 European ancestry women, 24,385 European ancestry men, 118,364 European ancestry individuals, 2,326 African American/Afro-Caribbean ancestry women, 855 African American/Afro-Caribbean ancestry men
Affymetrix, Illumina, Perlegen [up to 2800000] (imputed)
140
smoking behavior, body mass index
http://www.ebi.ac.uk/efo/EFO_0004318, http://www.ebi.ac.uk/efo/EFO_0004340
GCST004497
Genome-wide genotyping array
null
false
NA
true
2017-08-10
28,443,625
Justice AE
2017-04-26
Nat Commun
www.ncbi.nlm.nih.gov/pubmed/28443625
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
Waist circumference adjusted for BMI in non-smokers
77,113 European ancestry women, 47,319 European ancestry men, 4,856 European ancestry individuals, 8,799 African American/Afro-Caribbean ancestry women, 1,803 African American/Afro-Caribbean ancestry men, 1,020 Indian Asian ancestry women, 6,691 Indian Asian ancestry men, 1,526 Filipino ancestry women, 2,469 Hispanic/L...
16,011 European ancestry women, 17,912 European ancestry men, 105,218 European ancestry individuals, 2,073 African American/Afro-Caribbean ancestry women, 647 African American/Afro-Caribbean ancestry men
Affymetrix, Illumina, Perlegen [up to 2800000] (imputed)
108
BMI-adjusted waist circumference
http://www.ebi.ac.uk/efo/EFO_0007789
GCST004504
Genome-wide genotyping array
null
false
NA
false
2017-08-10
28,443,625
Justice AE
2017-04-26
Nat Commun
www.ncbi.nlm.nih.gov/pubmed/28443625
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
Waist-to-hip ratio adjusted for BMI in smokers
18,972 European ancestry women, 16,109 European ancestry men, 973 European ancestry individuals, 1,701 African American/Afro-Caribbean ancestry women, 903 African American/Afro-Caribbean ancestry men, 10 Indian Asian ancestry women, 957 Indian Asian ancestry men, 267 Filipino ancestry women, 475 Hispanic/Latino ancestr...
5,485 European ancestry women, 6,471 European ancestry men, 13,416 European ancestry individuals, 253 African American/Afro-Caribbean ancestry women, 208 African American/Afro-Caribbean ancestry men
Affymetrix, Illumina, Perlegen [up to 2800000] (imputed)
1
BMI-adjusted waist-hip ratio
http://www.ebi.ac.uk/efo/EFO_0007788
GCST004509
Genome-wide genotyping array
null
false
NA
false
2017-08-10
28,443,625
Justice AE
2017-04-26
Nat Commun
www.ncbi.nlm.nih.gov/pubmed/28443625
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
BMI in non-smokers
77,279 European ancestry women, 47,280 European ancestry men, 4,856 European ancestry individuals, 8,799 African American/Afro-Caribbean ancestry women, 1,803 African American/Afro-Caribbean ancestry men, 1,020 Indian Asian ancestry women, 6,691 Indian Asian ancestry men, 1,526 Filipino ancestry women, 2,469 Hispanic/L...
16,011 European ancestry women, 17,912 European ancestry men, 105,218 European ancestry individuals, 2,073 African American/Afro-Caribbean ancestry women, 647 African American/Afro-Caribbean ancestry men
Affymetrix, Illumina, Perlegen [up to 2800000] (imputed)
105
body mass index
http://www.ebi.ac.uk/efo/EFO_0004340
GCST004499
Genome-wide genotyping array
null
false
NA
false
2017-08-10
28,443,625
Justice AE
2017-04-26
Nat Commun
www.ncbi.nlm.nih.gov/pubmed/28443625
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
Waist circumference adjusted for BMI in smokers
19,276 European ancestry women, 16,408 European ancestry men, 973 European ancestry individuals, 1,701 African American/Afro-Caribbean ancestry women, 903 African American/Afro-Caribbean ancestry men, 10 Indian Asian ancestry women, 957 Indian Asian ancestry men, 267 Filipino ancestry women, 475 Hispanic/Latino ancestr...
5,485 European ancestry women, 6,471 European ancestry men, 13,416 European ancestry individuals, 253 African American/Afro-Caribbean ancestry women, 208 African American/Afro-Caribbean ancestry men
Affymetrix, Illumina, Perlegen [up to 2800000] (imputed)
15
BMI-adjusted waist circumference
http://www.ebi.ac.uk/efo/EFO_0007789
GCST004503
Genome-wide genotyping array
null
false
NA
false
2017-08-10
28,443,625
Justice AE
2017-04-26
Nat Commun
www.ncbi.nlm.nih.gov/pubmed/28443625
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
BMI in smokers
19,883 European ancestry women, up to 16,928 European ancestry men, up to 973 European ancestry individuals, 1,701 African American/Afro-Caribbean ancestry women, 903 African American/Afro-Caribbean ancestry men, 10 Indian Asian ancestry women, 957 Indian Asian ancestry men, 267 Filipino ancestry women, 475 Hispanic/La...
5,485 European ancestry women, 6,471 European ancestry men, 13,416 European ancestry individuals, 253 African American/Afro-Caribbean ancestry women, 208 African American/Afro-Caribbean ancestry men
Affymetrix, Illumina, Perlegen [up to 2800000] (imputed)
30
body mass index
http://www.ebi.ac.uk/efo/EFO_0004340
GCST004498
Genome-wide genotyping array
null
false
NA
false
2017-08-10
28,443,625
Justice AE
2017-04-26
Nat Commun
www.ncbi.nlm.nih.gov/pubmed/28443625
Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.
Waist-to-hip ratio adjusted for BMI in non-smokers
75,379 European ancestry women, 45,811 European ancestry men, 4,856 European ancestry individuals, 8,799 African American/Afro-Caribbean ancestry women, 1,803 African American/Afro-Caribbean ancestry men, 1,020 Indian Asian ancestry women, 6,691 Indian Asian ancestry men, 1,526 Filipino ancestry women, 2,469 Hispanic/L...
16,011 European ancestry women, 17,912 European ancestry men, 105,218 European ancestry individuals, 2,073 African American/Afro-Caribbean ancestry women, 647 African American/Afro-Caribbean ancestry men
Affymetrix, Illumina, Perlegen [up to 2800000] (imputed)
46
BMI-adjusted waist-hip ratio
http://www.ebi.ac.uk/efo/EFO_0007788
GCST004508
Genome-wide genotyping array
null
false
NA
false
2017-09-11
28,628,665
Sobota RS
2017-06-19
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/28628665
A chromosome 5q31.1 locus associates with tuberculin skin test reactivity in HIV-positive individuals from tuberculosis hyper-endemic regions in east Africa.
Resistance to Mycobacterium tuberculosis in HIV-positive individuals measured by a negative tuberculin skin test (continuous)
244 cases, 225 controls
null
Illumina [542585]
4
tuberculin skin test reactivity measurement, decreased susceptibility to bacterial infection
http://www.ebi.ac.uk/efo/EFO_0008307, http://www.ebi.ac.uk/efo/EFO_0008322
GCST004689
Genome-wide genotyping array
null
false
NA
false
2017-09-11
28,628,665
Sobota RS
2017-06-19
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/28628665
A chromosome 5q31.1 locus associates with tuberculin skin test reactivity in HIV-positive individuals from tuberculosis hyper-endemic regions in east Africa.
Resistance to Mycobacterium tuberculosis in HIV-positive individuals measured by a negative tuberculin skin test (dichotomous)
244 cases, 225 controls
null
Illumina [542585]
3
tuberculin skin test reactivity measurement, decreased susceptibility to bacterial infection
http://www.ebi.ac.uk/efo/EFO_0008307, http://www.ebi.ac.uk/efo/EFO_0008322
GCST004690
Genome-wide genotyping array
null
false
NA
false
2017-07-24
28,498,854
Liang J
2017-05-12
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/28498854
Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations.
Systolic blood pressure
Up to 31,155 African individuals
Up to 4,187 African individuals, up to 14,016 Korean ancestry individuals, up to 23,914 European ancestry individuals, up to 12,278 Hispanic individuals
Affymetrix, Illumina [at least 30072738] (imputed)
9
systolic blood pressure
http://www.ebi.ac.uk/efo/EFO_0006335
GCST004385
Genome-wide genotyping array
null
false
NA
false
2017-07-24
28,498,854
Liang J
2017-05-12
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/28498854
Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations.
Diastolic blood pressure
Up to 31,155 African individuals
Up to 4,187 African individuals, up to 14,016 Korean ancestry individuals, up to 23,914 European ancestry individuals, up to 12,278 Hispanic individuals
Affymetrix, Illumina [at least 30072738] (imputed)
15
diastolic blood pressure
http://www.ebi.ac.uk/efo/EFO_0006336
GCST004386
Genome-wide genotyping array
null
false
NA
false
2017-07-24
28,498,854
Liang J
2017-05-12
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/28498854
Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations.
Pulse pressure
Up to 31,155 African individuals
Up to 4,187 African individuals, up to 14,016 Korean ancestry individuals, up to 23,914 European ancestry individuals, up to 12,278 Hispanic individuals
Affymetrix, Illumina [at least 30072738] (imputed)
9
pulse pressure measurement
http://www.ebi.ac.uk/efo/EFO_0005763
GCST004387
Genome-wide genotyping array
null
false
NA
false
2017-07-24
28,498,854
Liang J
2017-05-12
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/28498854
Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations.
Hypertension
18,440 African individuals
2,375 African individuals, 3,718 Korean ancestry individuals, 9,348 European ancestry individuals, 3,445 Hispanic individuals
Affymetrix, Illumina [at least 30072738] (imputed)
7
hypertensive disorder
http://purl.obolibrary.org/obo/MONDO_0005044
GCST004384
Genome-wide genotyping array
null
false
NA
false
2017-07-24
28,498,854
Liang J
2017-05-12
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/28498854
Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations.
Blood pressure traits (multi-trait analysis)
Up to 31,155 African individuals
Up to 4,187 African individuals, up to 14,016 Korean ancestry individuals, up to 23,914 European ancestry individuals, up to 12,278 Hispanic individuals
Affymetrix, Illumina [at least 30072738] (imputed)
32
pulse pressure measurement, diastolic blood pressure, systolic blood pressure, hypertensive disorder
http://www.ebi.ac.uk/efo/EFO_0005763, http://www.ebi.ac.uk/efo/EFO_0006336, http://www.ebi.ac.uk/efo/EFO_0006335, http://purl.obolibrary.org/obo/MONDO_0005044
GCST004388
Genome-wide genotyping array
null
false
NA
false
2017-07-14
28,542,097
Wells QS
2017-05-24
Pharmacogenet Genomics
www.ncbi.nlm.nih.gov/pubmed/28542097
Genome-wide association and pathway analysis of left ventricular function after anthracycline exposure in adults.
Left ventricular function change in anthracycline treatment
337 European ancestry individuals, 30 African American individuals, 1 Asian individual, 4 Latino individuals, 13 individuals
152 European ancestry individuals, 23 African American individuals, 3 Asian individuals, 3 individuals
Illumina [4429986] (imputed)
1
left ventricular function, response to anthracycline-based chemotherapy
http://www.ebi.ac.uk/efo/EFO_0004295, http://www.ebi.ac.uk/efo/EFO_0005257
GCST004353
Genome-wide genotyping array
null
false
NA
false
2017-08-18
28,537,267
Sapkota Y
2017-05-24
Nat Commun
www.ncbi.nlm.nih.gov/pubmed/28537267
Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.
Endometriosis
14,926 European ancestry cases, 189,715 European ancestry controls, 2,119 Japanese ancestry cases, 2,143 Japanese ancestry controls
NA
Affymetrix, Illumina [up to 6979035] (imputed)
35
endometriosis
http://purl.obolibrary.org/obo/MONDO_0005133
GCST004549
Genome-wide genotyping array
null
false
NA
false
2017-08-16
28,521,775
Manichaikul A
2017-05-18
Respir Res
www.ncbi.nlm.nih.gov/pubmed/28521775
Genome-wide association study of subclinical interstitial lung disease in MESA.
Subclinical trait of interstitial lung disease (basilar percentage of high attenuation areas on CT scan)
2,434 European ancestry individuals, 2,470 African American individuals, 2,065 Hispanic individuals, 702 Chinese ancestry individuals
3,013 European ancestry individuals
Affymetrix [at least 897981] (imputed)
4
airway imaging measurement
http://www.ebi.ac.uk/efo/EFO_0007627
GCST004526
Genome-wide genotyping array
null
false
NA
false
2017-08-16
28,521,775
Manichaikul A
2017-05-18
Respir Res
www.ncbi.nlm.nih.gov/pubmed/28521775
Genome-wide association study of subclinical interstitial lung disease in MESA.
Subclinical trait of interstitial lung disease (basilar peel-core ratio of high attentuation areas on CT scan)
2,434 European ancestry individuals, 2,470 African American individuals, 2,065 Hispanic individuals, 702 Chinese ancestry individuals
NA
Affymetrix [at least 897981] (imputed)
9
airway imaging measurement
http://www.ebi.ac.uk/efo/EFO_0007627
GCST004525
Genome-wide genotyping array
null
false
NA
false
2017-08-16
28,521,775
Manichaikul A
2017-05-18
Respir Res
www.ncbi.nlm.nih.gov/pubmed/28521775
Genome-wide association study of subclinical interstitial lung disease in MESA.
Subclinical trait of interstitial lung disease (percentage of high attenuation areas on CT scan)
2,434 European ancestry individuals, 2,470 African American individuals, 2,065 Hispanic individuals, 702 Chinese ancestry individuals
3,013 European ancestry individuals
Affymetrix [at least 897981] (imputed)
1
airway imaging measurement
http://www.ebi.ac.uk/efo/EFO_0007627
GCST004527
Genome-wide genotyping array
null
false
NA
false
2019-09-02
28,628,107
Jonsson S
2017-06-19
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/28628107
Identification of sequence variants influencing immunoglobulin levels.
IgA levels
16,883 Icelandic ancestry individuals
2,151 Swedish ancestry individuals
Illumina [21568490] (imputed)
15
serum IgA amount
http://purl.obolibrary.org/obo/OBA_2050074
GCST008568
Genome-wide genotyping array, Genome-wide sequencing
null
false
NA
false
2019-09-02
28,628,107
Jonsson S
2017-06-19
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/28628107
Identification of sequence variants influencing immunoglobulin levels.
Composite immunoglobulin trait (IgA x IgG x IgM)
14,183 Icelandic ancestry individuals
2,146 Swedish ancestry individuals
Illumina [21568490] (imputed)
2
serum immunoglobulin amount
http://purl.obolibrary.org/obo/OBA_2050079
GCST008569
Genome-wide genotyping array, Genome-wide sequencing
null
false
NA
false
2019-09-02
28,628,107
Jonsson S
2017-06-19
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/28628107
Identification of sequence variants influencing immunoglobulin levels.
Composite immunoglobulin trait (IgA x IgG/IgM)
14,183 Icelandic ancestry individuals
2,146 Swedish ancestry individuals
Illumina [21568490] (imputed)
8
immunoglobulin isotype switching attribute
http://purl.obolibrary.org/obo/OBA_2045220
GCST008570
Genome-wide genotyping array, Genome-wide sequencing
null
false
NA
false
2019-09-02
28,628,107
Jonsson S
2017-06-19
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/28628107
Identification of sequence variants influencing immunoglobulin levels.
Composite immunoglobulin trait (IgA x IgG)
14,183 Icelandic ancestry individuals
2,146 Swedish ancestry individuals
Illumina [21568490] (imputed)
1
immunoglobulin isotype switching attribute
http://purl.obolibrary.org/obo/OBA_2045220
GCST008571
Genome-wide genotyping array, Genome-wide sequencing
null
false
NA
false
2019-09-02
28,628,107
Jonsson S
2017-06-19
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/28628107
Identification of sequence variants influencing immunoglobulin levels.
Composite immunoglobulin trait (IgA/IgG)
14,183 Icelandic ancestry individuals
2,146 Swedish ancestry individuals
Illumina [21568490] (imputed)
12
immunoglobulin isotype switching attribute
http://purl.obolibrary.org/obo/OBA_2045220
GCST008572
Genome-wide genotyping array, Genome-wide sequencing
null
false
NA
false
2019-09-02
28,628,107
Jonsson S
2017-06-19
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/28628107
Identification of sequence variants influencing immunoglobulin levels.
Composite immunoglobulin trait (IgA/IgM)
14,183 Icelandic ancestry individuals
2,146 Swedish ancestry individuals
Illumina [21568490] (imputed)
9
immunoglobulin isotype switching attribute
http://purl.obolibrary.org/obo/OBA_2045220
GCST008573
Genome-wide genotyping array, Genome-wide sequencing
null
false
NA
false
2019-09-02
28,628,107
Jonsson S
2017-06-19
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/28628107
Identification of sequence variants influencing immunoglobulin levels.
Composite immunoglobulin trait (IgG/IgM)
14,183 Icelandic ancestry individuals
2,146 Swedish ancestry individuals
Illumina [21568490] (imputed)
4
immunoglobulin isotype switching attribute
http://purl.obolibrary.org/obo/OBA_2045220
GCST008574
Genome-wide genotyping array, Genome-wide sequencing
null
false
NA
false
2019-09-02
28,628,107
Jonsson S
2017-06-19
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/28628107
Identification of sequence variants influencing immunoglobulin levels.
IgM levels
14,442 Icelandic ancestry individuals
2,157 Swedish ancestry individuals
Illumina [21568490] (imputed)
13
serum IgM amount
http://purl.obolibrary.org/obo/OBA_2050070
GCST008575
Genome-wide genotyping array, Genome-wide sequencing
null
false
NA
false
2019-09-02
28,628,107
Jonsson S
2017-06-19
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/28628107
Identification of sequence variants influencing immunoglobulin levels.
IgG levels
15,536 Icelandic ancestry individuals
2,158 Swedish ancestry individuals
Illumina [21568490] (imputed)
8
serum IgG amount
http://purl.obolibrary.org/obo/OBA_2050085
GCST008576
Genome-wide genotyping array, Genome-wide sequencing
null
false
NA
false
2017-09-11
28,641,744
Guo W
2017-07-01
Eur Neuropsychopharmacol
www.ncbi.nlm.nih.gov/pubmed/28641744
Polygenic risk score and heritability estimates reveals a genetic relationship between ASD and OCD.
Obsessive-compulsive disorder or autism spectrum disorder
2,998 European ancestry obsessive-compulsive disorder cases, 6,898 European ancestry autism spectrum disorder cases
NA
Illumina [6995140] (imputed)
13
obsessive-compulsive disorder, autism spectrum disorder
http://purl.obolibrary.org/obo/MONDO_0008114, http://purl.obolibrary.org/obo/MONDO_0005258
GCST004703
Genome-wide genotyping array
null
false
NA
false
2017-07-21
28,627,999
Ikram MA
2017-06-19
J Cereb Blood Flow Metab
www.ncbi.nlm.nih.gov/pubmed/28627999
Heritability and genome-wide associations studies of cerebral blood flow in the general population.
Cerebral blood flow
4,472 Dutch individuals
1,350 Icelandic individuals
Illumina [NR]
1
cerebral blood flow level
http://purl.obolibrary.org/obo/OBA_2045318
GCST004376
Genome-wide genotyping array
null
false
NA
false
2017-07-17
28,500,057
Bluett J
2017-05-12
Ann Rheum Dis
www.ncbi.nlm.nih.gov/pubmed/28500057
HLA-A 31:01 is not associated with the development of methotrexate pneumonitis in the UK population: results from a genome-wide association study.
Methotrexate-induced interstitial lung disease in rheumatoid arthritis
62 European ancestry cases, 175 European ancestry controls
NA
Illumina [NR]
3
response to methotrexate, interstitial lung disease
http://purl.obolibrary.org/obo/GO_0031427, http://purl.obolibrary.org/obo/MONDO_0015925
GCST004358
Genome-wide genotyping array
null
false
NA
false
2017-08-02
28,512,992
Joo YB
2017-05-16
Int J Rheum Dis
www.ncbi.nlm.nih.gov/pubmed/28512992
Association of CD8+ T-cells with bone erosion in patients with rheumatoid arthritis.
Bone erosion in rheumatoid arthritis
385 Korean ancestry cases, 326 Korean ancestry controls
NA
Illumina [439289]
2
joint damage measurement
http://www.ebi.ac.uk/efo/EFO_0005413
GCST004400
Genome-wide genotyping array
null
false
NA
false
2017-07-24
28,552,477
Ilboudo Y
2017-05-13
Blood Cells Mol Dis
www.ncbi.nlm.nih.gov/pubmed/28552477
Genome-wide association study of erythrocyte density in sickle cell disease patients.
Mean corpuscular hemoglobin concentration in sickle cell disease
317 cases
null
Illumina [~ 31000000] (imputed)
0
mean corpuscular hemoglobin concentration
http://www.ebi.ac.uk/efo/EFO_0004528
GCST004378
Genome-wide genotyping array
null
false
NA
false
2017-07-24
28,552,477
Ilboudo Y
2017-05-13
Blood Cells Mol Dis
www.ncbi.nlm.nih.gov/pubmed/28552477
Genome-wide association study of erythrocyte density in sickle cell disease patients.
Red blood cell density in sickle cell anemia
374 cases
NA
Illumina [~ 31000000] (imputed)
15
red blood cell density
http://purl.obolibrary.org/obo/OBA_2045260
GCST004379
Genome-wide genotyping array
null
false
NA
false
2017-06-27
28,560,309
Lee E
2017-04-23
Alzheimers Dement (Amst)
www.ncbi.nlm.nih.gov/pubmed/28560309
Single-nucleotide polymorphisms are associated with cognitive decline at Alzheimer's disease conversion within mild cognitive impairment patients.
Accelerated cognitive decline after conversion of mild cognitive impairment to Alzheimer's disease (Alzhiemer's diagnosis trajectory interaction)
242 European ancestry individuals
NA
Illumina [5908215] (imputed)
11
Alzheimer disease, cognitive decline measurement, Cognitive impairment
http://purl.obolibrary.org/obo/MONDO_0004975, http://www.ebi.ac.uk/efo/EFO_0007710, http://purl.obolibrary.org/obo/HP_0100543
GCST004253
Genome-wide genotyping array
null
false
NA
true
2022-09-27
28,506,689
Yadav P
2017-05-12
Gastroenterology
www.ncbi.nlm.nih.gov/pubmed/28506689
Genetic Factors Interact With Tobacco Smoke to Modify Risk for Inflammatory Bowel Disease in Humans and Mice.
Crohn's disease x smoking status (never vs ever smoking) interaction
10,856 cases, 4,887 controls
NA
Illumina [132890]
2
smoking status measurement, Crohn disease
http://www.ebi.ac.uk/efo/EFO_0006527, http://purl.obolibrary.org/obo/MONDO_0005011
GCST90137949
Targeted genotyping array
IIBDGC
false
NA
true
2022-09-27
28,506,689
Yadav P
2017-05-12
Gastroenterology
www.ncbi.nlm.nih.gov/pubmed/28506689
Genetic Factors Interact With Tobacco Smoke to Modify Risk for Inflammatory Bowel Disease in Humans and Mice.
Ulcerative colitis x smoking status (never vs ever smoking) interaction
8,879 cases, 4,887 controls
NA
Illumina [132890]
1
smoking status measurement, ulcerative colitis
http://www.ebi.ac.uk/efo/EFO_0006527, http://purl.obolibrary.org/obo/MONDO_0005101
GCST90137950
Targeted genotyping array
IIBDGC
false
NA
true
2022-09-27
28,506,689
Yadav P
2017-05-12
Gastroenterology
www.ncbi.nlm.nih.gov/pubmed/28506689
Genetic Factors Interact With Tobacco Smoke to Modify Risk for Inflammatory Bowel Disease in Humans and Mice.
Inflammatory bowel disease x smoking status (never vs ever smoking) interaction
19,735 cases, 4,887 controls
NA
Illumina [132890]
1
smoking status measurement, inflammatory bowel disease
http://www.ebi.ac.uk/efo/EFO_0006527, http://purl.obolibrary.org/obo/MONDO_0005265
GCST90137951
Targeted genotyping array
IIBDGC
false
NA
true
2022-09-27
28,506,689
Yadav P
2017-05-12
Gastroenterology
www.ncbi.nlm.nih.gov/pubmed/28506689
Genetic Factors Interact With Tobacco Smoke to Modify Risk for Inflammatory Bowel Disease in Humans and Mice.
Crohn's disease x smoking status (never vs current smoking) interaction
10,856 cases, 4,887 controls
NA
Illumina [132890]
3
smoking status measurement, Crohn disease
http://www.ebi.ac.uk/efo/EFO_0006527, http://purl.obolibrary.org/obo/MONDO_0005011
GCST90137952
Targeted genotyping array
IIBDGC
false
NA
true
2022-09-27
28,506,689
Yadav P
2017-05-12
Gastroenterology
www.ncbi.nlm.nih.gov/pubmed/28506689
Genetic Factors Interact With Tobacco Smoke to Modify Risk for Inflammatory Bowel Disease in Humans and Mice.
Ulcerative colitis x smoking status (never vs current smoking) interaction
8,879 cases, 4,887 controls
NA
Illumina [132890]
7
smoking status measurement, ulcerative colitis
http://www.ebi.ac.uk/efo/EFO_0006527, http://purl.obolibrary.org/obo/MONDO_0005101
GCST90137953
Targeted genotyping array
IIBDGC
false
NA
true
2022-09-27
28,506,689
Yadav P
2017-05-12
Gastroenterology
www.ncbi.nlm.nih.gov/pubmed/28506689
Genetic Factors Interact With Tobacco Smoke to Modify Risk for Inflammatory Bowel Disease in Humans and Mice.
Inflammatory bowel disease x smoking status (never vs current smoking) interaction
19,735 cases, 4,887 controls
NA
Illumina [132890]
2
smoking status measurement, inflammatory bowel disease
http://www.ebi.ac.uk/efo/EFO_0006527, http://purl.obolibrary.org/obo/MONDO_0005265
GCST90137954
Targeted genotyping array
IIBDGC
false
NA
true
2022-09-27
28,506,689
Yadav P
2017-05-12
Gastroenterology
www.ncbi.nlm.nih.gov/pubmed/28506689
Genetic Factors Interact With Tobacco Smoke to Modify Risk for Inflammatory Bowel Disease in Humans and Mice.
Crohn's disease x smoking status (never vs former smoking) interaction
10,856 cases, 4,887 controls
NA
Illumina [132890]
1
smoking status measurement, Crohn disease
http://www.ebi.ac.uk/efo/EFO_0006527, http://purl.obolibrary.org/obo/MONDO_0005011
GCST90137955
Targeted genotyping array
IIBDGC
false
NA
true
2022-09-27
28,506,689
Yadav P
2017-05-12
Gastroenterology
www.ncbi.nlm.nih.gov/pubmed/28506689
Genetic Factors Interact With Tobacco Smoke to Modify Risk for Inflammatory Bowel Disease in Humans and Mice.
Ulcerative colitis x smoking status (never vs former smoking) interaction
8,879 cases, 4,887 controls
NA
Illumina [132890]
1
smoking status measurement, ulcerative colitis
http://www.ebi.ac.uk/efo/EFO_0006527, http://purl.obolibrary.org/obo/MONDO_0005101
GCST90137956
Targeted genotyping array
IIBDGC
false
NA
true
2022-09-27
28,506,689
Yadav P
2017-05-12
Gastroenterology
www.ncbi.nlm.nih.gov/pubmed/28506689
Genetic Factors Interact With Tobacco Smoke to Modify Risk for Inflammatory Bowel Disease in Humans and Mice.
Inflammatory bowel disease x smoking status (never vs former smoking) interaction
19,735 cases, 4,887 controls
NA
Illumina [132890]
4
smoking status measurement, inflammatory bowel disease
http://www.ebi.ac.uk/efo/EFO_0006527, http://purl.obolibrary.org/obo/MONDO_0005265
GCST90137957
Targeted genotyping array
IIBDGC
false
NA
true
2017-08-01
28,512,139
Mack S
2017-05-16
J Lipid Res
www.ncbi.nlm.nih.gov/pubmed/28512139
A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms.
Lipoprotein(a) levels adjusted for apolipoprotein(a) isoforms
13,781 European ancestry individuals
NA
Affymetrix, Illumina [at least 7600000] (imputed)
28
lipoprotein A measurement, apolipoprotein A 1 measurement
http://www.ebi.ac.uk/efo/EFO_0006925, http://www.ebi.ac.uk/efo/EFO_0004614
GCST004399
Genome-wide genotyping array
null
false
NA
false
2017-08-01
28,512,139
Mack S
2017-05-16
J Lipid Res
www.ncbi.nlm.nih.gov/pubmed/28512139
A genome-wide association meta-analysis on lipoprotein (a) concentrations adjusted for apolipoprotein (a) isoforms.
Lipoprotein (a) levels
13,781 European ancestry individuals
NA
Affymetrix, Illumina [at least 7600000] (imputed)
44
lipoprotein A measurement
http://www.ebi.ac.uk/efo/EFO_0006925
GCST004398
Genome-wide genotyping array
null
false
NA
false
2017-09-05
28,584,135
Chaturvedi S
2017-06-05
Blood
www.ncbi.nlm.nih.gov/pubmed/28584135
Genome-wide association study to identify variants associated with acute severe vaso-occlusive pain in sickle cell anemia.
Vaso-occlusive pain in sickle-cell anemia
359 African ancestry individuals, 934 African ancestry children
null
Illumina [1098907] (imputed)
1
vaso-occlusive pain measurement
http://www.ebi.ac.uk/efo/EFO_0008316
GCST004644
Genome-wide genotyping array
null
false
NA
false
2024-04-30
28,596,592
Kristjansson RP
2017-06-08
Sci Rep
www.ncbi.nlm.nih.gov/pubmed/28596592
Sequence variant at 4q25 near PITX2 associates with appendicitis.
Appendicitis
8,566 European ancestry cases, 344,656 European ancestry controls
NA
Illumina [NR] (imputed)
1
appendicitis
http://purl.obolibrary.org/obo/MONDO_0005649
GCST90428450
Genome-wide genotyping array, Genome-wide sequencing
deCODE
false
NA
false
2017-07-13
28,537,254
Tsoi LC
2017-05-24
Nat Commun
www.ncbi.nlm.nih.gov/pubmed/28537254
Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants.
Psoriasis
Up to 11,988 European ancestry cases, up to 275,335 European ancestry controls
7,044 European ancestry cases, 11,434 European ancestry controls
Illumina, Perlegen [9113515] (imputed)
61
psoriasis
http://purl.obolibrary.org/obo/MONDO_0005083
GCST004346
Genome-wide genotyping array
null
false
NA
false
2017-08-11
28,545,128
McDaniel LD
2017-05-18
PLoS Genet
www.ncbi.nlm.nih.gov/pubmed/28545128
Common variants upstream of MLF1 at 3q25 and within CPZ at 4p16 associated with neuroblastoma.
Sporadic neuroblastoma
2,101 European ancestry child cases, 4,202 European ancestry controls
365 African American child cases, 2,491 African American controls, 427 European ancestry cases, 783 European ancestry controls, 371 cases, 1,122 controls
Illumina [7968453] (imputed)
9
neuroblastoma
http://purl.obolibrary.org/obo/MONDO_0005072
GCST004510
Genome-wide genotyping array
null
false
NA
false
2017-07-21
28,577,822
Deters KD
2017-05-31
Brain Lang
www.ncbi.nlm.nih.gov/pubmed/28577822
Genome-wide association study of language performance in Alzheimer's disease.
Language performance in older adults (adjusted for episodic memory)
310 European ancestry Alzheimer's disease individuals, 511 European ancestry individuals with late mild cognitive impairment, 280 European ancestry individuals with early mild cognitive impairment, 94 European ancestry individuals with significant memory concern, 365 European ancestry individuals with normal cognition
NA
Illumina [5574300] (imputed)
8
cognitive decline measurement, memory performance, language measurement
http://www.ebi.ac.uk/efo/EFO_0007710, http://www.ebi.ac.uk/efo/EFO_0004874, http://www.ebi.ac.uk/efo/EFO_0007797
GCST004372
Genome-wide genotyping array
null
false
NA
false
2017-08-02
28,580,392
Taylor KC
2016-08-27
Bone Rep
www.ncbi.nlm.nih.gov/pubmed/28580392
A genome-wide association study meta-analysis of clinical fracture in 10,012 African American women.
Bone fracture in osteoporosis
up to 10,305 African American women
NA
Affymetrix, Illumina [~ 2500000] (imputed)
9
bone fracture
http://purl.obolibrary.org/obo/MONDO_0005315
GCST004403
Genome-wide genotyping array
null
false
NA
false
2017-08-31
28,604,728
Litchfield K
2017-06-12
Nat Genet
www.ncbi.nlm.nih.gov/pubmed/28604728
Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.
Testicular germ cell tumor
5,518 European ancestry cases, 19,055 European ancestry controls
1,801 European ancestry cases, 4,027 European ancestry controls
Illumina [at least 371504] (imputed)
43
testicular germ cell tumor
http://purl.obolibrary.org/obo/MONDO_0010108
GCST004635
Genome-wide genotyping array
null
false
NA
false
2017-09-13
28,598,434
Scelo G
2017-06-09
Nat Commun
www.ncbi.nlm.nih.gov/pubmed/28598434
Genome-wide association study identifies multiple risk loci for renal cell carcinoma.
Renal cell carcinoma
10,784 European ancestry cases, 20,406 European ancestry controls
3,182 European ancestry cases, 6,301 European ancestry controls
Illumina [7437091] (imputed)
26
renal cell carcinoma
http://purl.obolibrary.org/obo/MONDO_0005086
GCST004710
Genome-wide genotyping array
null
false
NA
false
2017-10-06
28,598,419
Hong X
2017-06-09
Nat Commun
www.ncbi.nlm.nih.gov/pubmed/28598419
Genome-wide approach identifies a novel gene-maternal pre-pregnancy BMI interaction on preterm birth.
Preterm birth (maternal effect) (maternal pre-pregnancy BMI interaction)
329 African American normal weight preterm birth mothers, 514 African American normal weight term birth mothers, 463 African American overweight or obese preterm birth mothers, 580 African American overweight or obese term birth mothers
NA
Affymetrix, Illumina [9929081] (imputed)
1
body mass index, premature birth, parental genotype effect measurement
http://www.ebi.ac.uk/efo/EFO_0004340, http://www.ebi.ac.uk/efo/EFO_0003917, http://www.ebi.ac.uk/efo/EFO_0005939
GCST004842
Genome-wide genotyping array
null
false
NA
true
2017-10-06
28,598,419
Hong X
2017-06-09
Nat Commun
www.ncbi.nlm.nih.gov/pubmed/28598419
Genome-wide approach identifies a novel gene-maternal pre-pregnancy BMI interaction on preterm birth.
Preterm birth (maternal effect)
698 African American preterm birth mothers, 1,035 African American term birth mothers
307 African American preterm birth mothers, 475 African American term birth mothers, 318 European ancestry preterm birth mothers, 365 European ancestry term birth mothers
Illumina [13317377] (imputed)
0
premature birth, parental genotype effect measurement
http://www.ebi.ac.uk/efo/EFO_0003917, http://www.ebi.ac.uk/efo/EFO_0005939
GCST004841
Genome-wide genotyping array
null
false
NA
false
2017-10-06
28,598,419
Hong X
2017-06-09
Nat Commun
www.ncbi.nlm.nih.gov/pubmed/28598419
Genome-wide approach identifies a novel gene-maternal pre-pregnancy BMI interaction on preterm birth.
Spontaneous preterm birth (maternal effect)
461 African American spontaneous preterm birth mothers, 1,035 African American term birth mothers
NA
Illumina [13317377] (imputed)
2
spontaneous preterm birth, parental genotype effect measurement
http://www.ebi.ac.uk/efo/EFO_0006917, http://www.ebi.ac.uk/efo/EFO_0005939
GCST004845
Genome-wide genotyping array
null
false
NA
false
2017-10-06
28,598,419
Hong X
2017-06-09
Nat Commun
www.ncbi.nlm.nih.gov/pubmed/28598419
Genome-wide approach identifies a novel gene-maternal pre-pregnancy BMI interaction on preterm birth.
Gestational age at birth (maternal effect)
698 African American preterm birth mothers, 1,035 African American term birth mothers
NA
Illumina [13317377] (imputed)
3
gestational age, parental genotype effect measurement
http://www.ebi.ac.uk/efo/EFO_0005112, http://www.ebi.ac.uk/efo/EFO_0005939
GCST004844
Genome-wide genotyping array
null
false
NA
false
2017-10-06
28,598,419
Hong X
2017-06-09
Nat Commun
www.ncbi.nlm.nih.gov/pubmed/28598419
Genome-wide approach identifies a novel gene-maternal pre-pregnancy BMI interaction on preterm birth.
Preterm birth (maternal effect) (maternal pre-pregnancy BMI interaction)
447 African American normal weight term birth mothers, 498 African American overweight or obese term birth mothers, 268 African American normal weight preterm birth mothers, 373 African American overweight or obese preterm birth mothers
67 African American normal weight term birth mothers, 82 African American overweight or obese term birth mothers, 61 African American normal weight preterm birth mothers, 90 African American overweight or obese preterm birth mothers, 247 European ancestry normal weight term birth mothers, 118 European ancestry overwei...
Illumina [13317377] (imputed)
0
body mass index, premature birth, parental genotype effect measurement
http://www.ebi.ac.uk/efo/EFO_0004340, http://www.ebi.ac.uk/efo/EFO_0003917, http://www.ebi.ac.uk/efo/EFO_0005939
GCST004843
Genome-wide genotyping array
null
false
NA
true
2017-09-05
28,588,231
Li M
2017-06-06
Sci Rep
www.ncbi.nlm.nih.gov/pubmed/28588231
Genome-wide association study of 1,5-anhydroglucitol identifies novel genetic loci linked to glucose metabolism.
1,5-anhydroglucitol levels
7,550 European ancestry individuals
8,790 European ancestry individuals, 2,030 African American individuals
Affymetrix [at least 8500000] (imputed)
8
1,5 anhydroglucitol measurement
http://www.ebi.ac.uk/efo/EFO_0008009
GCST004643
Genome-wide genotyping array
null
false
NA
false
2017-08-23
28,630,421
Li D
2017-06-19
Sci Rep
www.ncbi.nlm.nih.gov/pubmed/28630421
A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.
Anorexia nervosa (excluding migration to or from binge-eating disorder or bulimia nervosa)
692 European ancestry female cases and 3,570 European ancestry female controls
Cases and controls (see Boraska et al, 2014)
Illumina [507999]
1
anorexia nervosa
http://purl.obolibrary.org/obo/MONDO_0005351
GCST004585
Genome-wide genotyping array
null
false
NA
false
2017-09-10
28,525,603
Ortega-Alonso A
2017-05-19
Schizophr Bull
www.ncbi.nlm.nih.gov/pubmed/28525603
Genome-Wide Association Study of Psychosis Proneness in the Finnish Population.
Psychosis proneness (hypomanic personality scale)
3,967 Finnish ancestry individuals
NA
Illumina [~ 9600000] (imputed)
6
psychosis predisposition measurement
http://www.ebi.ac.uk/efo/EFO_0008337
GCST004678
Genome-wide genotyping array
null
false
NA
false
2017-09-10
28,525,603
Ortega-Alonso A
2017-05-19
Schizophr Bull
www.ncbi.nlm.nih.gov/pubmed/28525603
Genome-Wide Association Study of Psychosis Proneness in the Finnish Population.
Psychosis proneness (perceptual aberration scale)
4,057 Finnish ancestry individuals
NA
Illumina [~ 9600000] (imputed)
3
psychosis predisposition measurement
http://www.ebi.ac.uk/efo/EFO_0008337
GCST004685
Genome-wide genotyping array
null
false
NA
false
2017-09-10
28,525,603
Ortega-Alonso A
2017-05-19
Schizophr Bull
www.ncbi.nlm.nih.gov/pubmed/28525603
Genome-Wide Association Study of Psychosis Proneness in the Finnish Population.
Psychosis proneness (revised physical anhedonia scale)
3,988 Finnish ancestry individuals
NA
Illumina [~ 9600000] (imputed)
1
psychosis predisposition measurement
http://www.ebi.ac.uk/efo/EFO_0008337
GCST004680
Genome-wide genotyping array
null
false
NA
false
2017-09-10
28,525,603
Ortega-Alonso A
2017-05-19
Schizophr Bull
www.ncbi.nlm.nih.gov/pubmed/28525603
Genome-Wide Association Study of Psychosis Proneness in the Finnish Population.
Psychosis proneness (revised social anhedonia scale)
4,025 Finnish ancestry individuals
NA
Illumina [~ 9600000] (imputed)
2
psychosis predisposition measurement
http://www.ebi.ac.uk/efo/EFO_0008337
GCST004686
Genome-wide genotyping array
null
false
NA
false
2017-09-10
28,525,603
Ortega-Alonso A
2017-05-19
Schizophr Bull
www.ncbi.nlm.nih.gov/pubmed/28525603
Genome-Wide Association Study of Psychosis Proneness in the Finnish Population.
Psychosis proneness (hypomanic personality scale and perceptual aberration scale)
3,824 Finnish ancestry individuals
NA
Illumina [~ 9600000] (imputed)
4
psychosis predisposition measurement
http://www.ebi.ac.uk/efo/EFO_0008337
GCST004679
Genome-wide genotyping array
null
false
NA
false
2017-09-10
28,525,603
Ortega-Alonso A
2017-05-19
Schizophr Bull
www.ncbi.nlm.nih.gov/pubmed/28525603
Genome-Wide Association Study of Psychosis Proneness in the Finnish Population.
Psychosis proneness (schizoidia scale)
4,191 Finnish ancestry individuals
NA
Illumina [~ 9600000] (imputed)
0
psychosis predisposition measurement
http://www.ebi.ac.uk/efo/EFO_0008337
GCST004687
Genome-wide genotyping array
null
false
NA
false
2017-09-10
28,525,603
Ortega-Alonso A
2017-05-19
Schizophr Bull
www.ncbi.nlm.nih.gov/pubmed/28525603
Genome-Wide Association Study of Psychosis Proneness in the Finnish Population.
Psychosis proneness (hypomanic personality scale and revised physical anhedonia scale)
3,787 Finnish ancestry individuals
NA
Illumina [~ 9600000] (imputed)
6
psychosis predisposition measurement
http://www.ebi.ac.uk/efo/EFO_0008337
GCST004681
Genome-wide genotyping array
null
false
NA
false
2017-09-10
28,525,603
Ortega-Alonso A
2017-05-19
Schizophr Bull
www.ncbi.nlm.nih.gov/pubmed/28525603
Genome-Wide Association Study of Psychosis Proneness in the Finnish Population.
Psychosis proneness (hypomanic personality scale and revised social anhedonia scale)
3,837 Finnish ancestry individuals
NA
Illumina [~ 9600000] (imputed)
5
psychosis predisposition measurement
http://www.ebi.ac.uk/efo/EFO_0008337
GCST004682
Genome-wide genotyping array
null
false
NA
false
2017-09-10
28,525,603
Ortega-Alonso A
2017-05-19
Schizophr Bull
www.ncbi.nlm.nih.gov/pubmed/28525603
Genome-Wide Association Study of Psychosis Proneness in the Finnish Population.
Psychosis proneness (perceptual aberration scale and revised physical anhedonia scale)
3,812 Finnish ancestry individuals
NA
Illumina [~ 9600000] (imputed)
1
psychosis predisposition measurement
http://www.ebi.ac.uk/efo/EFO_0008337
GCST004688
Genome-wide genotyping array
null
false
NA
false
2017-09-10
28,525,603
Ortega-Alonso A
2017-05-19
Schizophr Bull
www.ncbi.nlm.nih.gov/pubmed/28525603
Genome-Wide Association Study of Psychosis Proneness in the Finnish Population.
Psychosis proneness (perceptual aberration scale and revised social anhedonia scale)
3,868 Finnish ancestry individuals
NA
Illumina [~ 9600000] (imputed)
2
psychosis predisposition measurement
http://www.ebi.ac.uk/efo/EFO_0008337
GCST004683
Genome-wide genotyping array
null
false
NA
false