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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]
02/10/12 Stolk L
January 22, 2012
Nat Genet
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
Menopause (age at onset) 38,968 European ancestry female individuals Up to 14,435 European ancestry female individuals View full set of 19 SNPs Affymetrix & Illumina
[2,551,160] (imputed)
20p12.3 MCM8 MCM8 rs16991615-A missense 0.069 1 x 10-73 .948 [0.85-1.05] years increase
19q13.42 TMEM150B TMEM150B rs11668344-G intron 0.363 1 x 10-59 .416 [0.37-0.47] years decrease
5q35.2 UIMC1 UIMC1 rs365132-T cds-synon 0.49 9 x 10-32 .287 [0.24-0.34] years increase
12q13.3 PRIM1 PRIM1; HSD17B6 rs2277339-G missense;nearGene-5 0.102 2 x 10-19 .38 [0.3-0.46] years decrease
4q21.23 HELQ HELQ rs4693089-G intron 0.486 2 x 10-19 .228 [0.18-0.28] years increase
1p34.3 RHBDL2 RHBDL2 rs4246511-T intron 0.271 9 x 10-17 .24 [0.18-0.3] years increase
6p21.33 PRRC2A PRRC2A rs1046089-A missense 0.353 2 x 10-16 .213 [0.16-0.26] years decrease
8p11.23 ASH2L ASH2L rs2517388-G intron 0.174 9 x 10-15 .262 [0.2-0.33] years increase
2q31.1 TLK1 TLK1 rs10183486-T intron 0.366 2 x 10-14 .196 [0.15-0.25] years decrease
15q26.1 POLG POLG rs2307449-G intron 0.405 4 x 10-13 .184 [0.14-0.23] years decrease

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