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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]
02/03/15 Feng P
July 09, 2014
BMC Oral Health
Genome wide association scan for chronic periodontitis implicates novel locus.
Chronic periodontitis 63 European ancestry cases, 543 European ancestry controls, up to 32 African American cases, up to 158 African American controls, up to 4 cases, up to 66 controls 495 European ancestry cases, 981 European ancestry controls, 118 African ancestry cases, 225 African ancestry controls 11q14.1 DLG2 DLG2 rs10501568-? intron NR 9 x 10-6 NR Illumina
04/09/13 Comuzzie AG
December 04, 2012
PLoS One
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
Obesity-related traits 815 Hispanic children from 263 families NA 11q14.1 DLG2 DLG2 rs2116483-A intron 0.416 8 x 10-6 (Energy intake ) .02 [NR] kcal/d increase Illumina
07/13/12 Turnbull C
April 29, 2012
Nat Genet
A genome-wide association study identifies susceptibility loci for Wilms tumor.
Wilms tumor 757 European ancestry cases, 1,879 European ancestry controls 1,488 European ancestry cases, 3,851 European ancestry controls 11q14.1 DLG2 DLG2 rs790356-G intron 0.5 4 x 10-15 1.28 [1.17-1.39] Illumina
03/27/12 Demirkan A
February 16, 2012
PLoS Genet
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
Phospholipid levels (plasma) 4,034 European ancestry individuals NA 11q14.1 DLG2 DLG2 rs17148090-? intron NR 4 x 10-8 (levels) .7 [NR] % increase Illumina
[NR] (imputed)
11/25/08 Melzer D
May 09, 2008
PLoS Genet
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
Protein quantitative trait loci 1,200 European ancestry individuals up to 4,590 European ancestry individuals 11q14.1 DLG2 DLG2 rs3885683-? intron 0.11 8 x 10-6 (MCP1) NR Illumina
11/25/08 Fung HC
September 28, 2006
Lancet Neurol
Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data.
Parkinson's disease 267 European ancestry cases, 270 European ancestry controls NA 11q14.1 DLG2 DLG2 rs10501570-? intron NR 7 x 10-6 5 [2.00-12.50] Illumina

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