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Division of Genomic Medicine

A Catalog of Published Genome-Wide Association Studies


Update (5/12/15): The NHGRI-EBI GWAS Catalog has moved to the European Molecular Biology Laboratory-European Bioinformatics Institute (EMBL-EBI) at  http://www.ebi.ac.uk/gwas. Users may now find the new search interface and updated content at this site.  Questions about the GWAS Catalog may be directed to gwas-info@ebi.ac.uk.

Why has the catalog moved to EMBL-EBI?
From September 2010 to the present, delivery and development of the Catalog has been a collaborative project between EMBL-EBI and NHGRI. In March 2015 the Catalog infrastructure moved to EMBL-EBI to enable delivery of an improved user interface, including ontology driven Catalog searching, and new curatorial infrastructure, supporting improved QC processes. Catalog content available through this original GWAS Catalog website was last updated on February 20th 2015 with all previous and updated content available at EMBL-EBI. 


The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog).
Read our recent article from Nucleic Acids Research.

Published Genome-Wide Associations
Credit: Darryl Leja and Teri Manolio, NHGRI; Tony Burdett, Dani Welter, and Helen Parkinson, EBI

 
An archived tab-delimited file of the GWAS Catalog content prior to the EBI transition is available here: Tab Delimited File
 

The genome-wide association study (GWAS) publications in the Catalog include a primary GWAS analysis, defined as array-based genotyping and analysis of 100,000+ pre-QC SNPs selected to tag variation across the genome and without regard to gene content.  GWAS data from published studies which are incorporated into new GWAS analyses are eligible, provided they meet the other criteria.  Studies imputing sequencing data to genotyping arrays are eligible as long as the arrays include sufficient genome-wide coverage so that the post-imputation analysis meets the definition of a GWAS analysis, as described above. The scope of the GWAS Catalog is currently being expanded to include studies of large-scale targeted/non-genome-wide arrays, including the Metabochip, Immunochip and Exome arrays. This is currently in a pilot phase where prioritization of targeted and exome array studies for inclusion in the Catalog is by 1) relevance of the trait analyzed 2) user request.  

How to cite the NHGRI GWAS Catalog:
MacArthur J, Bowler E, Cerezo M, Gil L, Hall P, Hastings E, Junkins H, McMahon A, Milano A, Morales J, Pendlington Z, Welter D, Burdett T, Hindorff L, Flicek P, Cunningham F, and Parkinson H. The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog). Nucleic Acids Research, 2017, Vol. 45 (Database issue): D896-D901.

For questions or comments about this page, send an e-mail to: gwas_table@mail.nih.gov

 

 

 

 





Notice: The updated Catalog content may now be searched at http://www.ebi.ac.uk/gwas/.

An archived, tab-delimited file of the GWAS Catalog content prior to the EBI transition is available here: Tab Delimited File

Date Added to Catalog (since 11/25/08) First Author/Date/ Journal/Study Disease/Trait Initial
Sample Description
Replication Sample Description Region Reported Gene(s) Mapped Gene(s) Strongest SNP-Risk Allele Context Risk Allele Frequency in Controls P-value
OR or beta-coefficient and [95% CI]
Platform
[SNPs passing QC]
CNV
01/21/15 Wang Y
June 01, 2014
Nat Genet
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer.
Lung cancer 3,442 European ancestry adenocarcinoma cases, 3,275 European ancestry squamous cell carcinoma cases, 4,631 cases, up to 15,861 controls 3,589 European ancestry adenocarcinoma cases, 3,202 European ancestry squamous cell carcinoma cases, 3,455 cases, up to 38,295 controls 3q28 TP63 TP63 rs13314271-T intron 0.49 7 x 10-10 (Adenocarcinoma) 1.13 [1.09-1.18] Illumina
[8.9 million] (Imputed)
N
05/01/14 Figueroa JD
October 24, 2013
Hum Mol Genet
Genome-wide association study identifies multiple loci associated with bladder cancer risk.
Bladder cancer up to 2,305 European ancestry cases, up to 3,901 European ancestry controls up to 13,298 cases, up to 54,535 controls 3q28 TP63 MIR944 - LEPREL1 rs710521-A 0.73 2 x 10-11 1.14 [1.10-1.19] Illumina
[462,190]
N
02/01/13 Lan Q
November 11, 2012
Nat Genet
Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.
Lung cancer 5,510 East Asian ancestry cases, 4,544 East Asian ancestry controls 1,099 East Asian ancestry cases, 2,913 East Asian ancestry controls 3q28 TP63 TP63 rs4488809-C intron 0.42 4 x 10-9 1.19 [1.12-1.26] Illumina
[596,032]
N
09/20/12 Shiraishi K
July 15, 2012
Nat Genet
A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.
Lung adenocarcinoma 1,695 Japanese ancestry cases, 5,333 Japanese ancestry controls 4,334 Japanese ancestry cases, 8,202 Japanese ancestry controls 3q28 TP63 TP63 rs10937405-C intron 0.67 7 x 10-17 1.25 [1.19-1.32] Illumina
[538,166]
N
01/06/12 Ellinghaus E
November 11, 2011
Leukemia
Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.
Acute lymphoblastic leukemia (childhood) 419 European ancestry cases, 474 European ancestry controls Up to 1,277 European ancestry cases and 3,061 European ancestry controls 3q28 TP63 TP63 rs17505102-? intron NR 2 x 10-8 (Combined ALL) 1.47 [1.28-1.67] Affymetrix
[355,750]
N
01/07/12 " Acute lymphoblastic leukemia (childhood) 419 European ancestry cases, 474 European ancestry controls Up to 1,277 European ancestry cases and 3,061 European ancestry controls 3q28 TP63 TP63 rs17505102-? intron NR 9 x 10-9 (ETV6-RUNX1-positive) NR Affymetrix
[355,750]
N
08/03/11 Hu Z
July 03, 2011
Nat Genet
A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese.
Lung cancer 2,331 Han Chinese ancestry cases, 3,077 Han Chinese ancestry controls 6,313 Han Chinese ancestry cases, 6,409 Han Chinese ancestry controls 3q28 TP63 TP63 rs4488809-C intron 0.47 7 x 10-26 1.26 [1.21-1.32] Affymetrix
[906,703]
N
12/08/10 Rothman N
October 24, 2010
Nat Genet
A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
Bladder cancer 3,532 European ancestry cases, 5,120 European ancestry controls 8,381 cases, 48,275 controls 3q28 TP63 MIR944 - LEPREL1 rs710521-A 0.73 2 x 10-10 1.18 [1.12-1.24] Illumina
[589,299]
N
10/07/10 Miki D
September 26, 2010
Nat Genet
Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations.
Lung adenocarcinoma 1,004 Japanese ancestry cases, 1,900 Japanese ancestry controls 1,094 East Asian ancestry cases, 9,148 East Asian ancestry controls 3q28 TP63 TP63 rs10937405-C intron 0.67 7 x 10-12 1.31 [1.22-1.42] Illumina
[432,024]
N
04/14/10 Kiemeney LA
March 28, 2010
Nat Genet
A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.
Urinary bladder cancer 1,889 European ancestry cases, 39,310 European ancestry controls 2,850 European ancestry cases, 6,239 European ancestry controls 3q28 TP63 MIR944 - LEPREL1 rs710521-A 0.73 6 x 10-8 1.19 [1.12-1.27] Illumina
[304,703]
N
02/12/10 Shen L
January 22, 2010
Neuroimage
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 3q28[rs7610017]; TP63 - rs7610017-? NR x 10 <1 x 10-6 (multiple phenotypes) NR Illumina
[530,992]
N
11/25/08 Kiemeney LA
September 14, 2008
Nat Genet
Sequence variant on 8q24 confers susceptibility to urinary bladder cancer.
Urinary bladder cancer 1,803 European ancestry cases, 34,336 European ancestry controls 2,165 European ancestry cases, 3,800 European ancestry controls 3q28 TP63 MIR944 - LEPREL1 rs710521-A 0.73 1 x 10-7 1.19 [1.12-1.27] Illumina
[302,140]
N




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Catalog Data Last Updated: February 20, 2015
Web Page Text Last Updated: September 16, 2015