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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]
05/12/14 Willer CJ
October 06, 2013
Nat Genet
Discovery and refinement of loci associated with lipid levels.
LDL cholesterol 94,595 European ancestry individuals 93,982 European ancestry individuals 1q21.3 ANXA9, CERS2 ANXA9 rs267733-G missense 0.16 5 x 10-9 .033 [NR] unit decrease NR (Imputed) N
08/13/13 Kirin M
April 11, 2013
Hum Mol Genet
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
Rhegmatogenous retinal detachment 867 European ancestry cases, 1,953 European ancestry controls 1,966 European ancestry cases, 5,918 European ancestry controls 1q21.3 CERS2,SETBD1,CTSS,MCL1,ANXA9,PRUNE,ARNT,GOLPH3L, CTSK, FAM63A,HORMAD1,ADAMTSL4,ENSA CERS2 rs267738-A missense 0.275 1 x 10-7 1.23 [1.14-1.33] Illumina
10/07/11 Amos CI
September 22, 2011
Hum Mol Genet
Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.
Melanoma 1,804 European ancestry cases, 1,026 European ancestry controls 6,483 European and Middle East/North African ancestry cases, 23,324 European and Middle East/North African ancestry controls 1q21.3 ANXA9 ANXA9 rs1722784-? intron NR 2 x 10-6 1.12 [NR] Illumina
05/05/10 Kottgen A
April 11, 2010
Nat Genet
New loci associated with kidney function and chronic kidney disease.
Chronic kidney disease Up to 67,093 European ancestry individuals Up to 22,982 European ancestry individuals 1q21.3 ANXA9,FAM63A,PRUNE,BNIPL,LASS2,SETDB1 CERS2 - ANXA9 rs267734-C 0.20 1 x 10-12 (eGFRcrea) .01 [0.004-0.016] ml/min/1.73m2 increase Affymetrix & Illumina
[~2.5 million] (imputed)

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