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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 Users may now find the new search interface and updated content at this site.  Questions about the GWAS Catalog may be directed to

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.

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Notice: The updated Catalog content may now be searched at

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]
[SNPs passing QC]
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 22q12.1 CHEK2 CHEK2 rs17879961-A missense 0.9975 1 x 10-13 (Squamous cell carcinoma) 2.63 [2.04-3.33] Illumina
[8.9 million] (Imputed)
22q12.1 CHEK2 CHEK2 rs17879961-A missense 0.9975 3 x 10-11 (All lung cancer) 1.67 [1.43-1.92]
12/11/12 Wu C
September 09, 2012
Nat Genet
Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.
Esophageal cancer (squamous cell) 2,031 Han Chinese ancestry cases, 2,044 Han Chinese ancestry controls 8,092 Chinese ancestry cases, 8,620 Chinese ancestry controls 22q12.1 CHEK2 CHEK2 rs4822983-T intron 0.20 2 x 10-22 1.27 [1.21-1.34] NR N
08/20/12 Eriksson N
June 30, 2012
BMC Med Genet
Genetic variants associated with breast size also influence breast cancer risk.
Breast size 16,175 European ancestry female individuals NA 22q12.1 CHEK2, MTFP1, LOC646513, SEC14L2, SDC4P HSCB - CCDC117 rs4820792-T .180 4 x 10-7 .105 [0.065-.146] cup size increase Illumina
[7,422,970] (imputed)
09/23/10 Abnet CC
August 22, 2010
Nat Genet
A shared susceptibility locus in PLCE1 at 10q23 for gastric adenocarcinoma and esophageal squamous cell carcinoma.
Esophageal cancer and gastric cancer 1,625 Chinese ancestry gastric cancer cases, 1,898 Chinese ancestry ESCC cases, 2,100 Chinese ancestry controls NA 22q12.1 CHEK2,HSCB CHEK2 rs738722-T intron 0.25 1 x 10-8 (ESCC) 1.3 [1.19-1.43] Illumina
07/12/10 Ramdas WD
June 10, 2010
PLoS Genet
A genome-wide association study of optic disc parameters.
Vertical cup-disc ratio 7,360 European ancestry individuals 4,455 European ancestry individuals 22q12.1 CHEK2 CHEK2 rs1547014-T intron 0.29 1 x 10-8 .01 [0.007-0.015] mm2 decrease Affymetrix and Illumina
[~2.5 million] (imputed)

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