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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]
03/19/13 van der Harst P
December 05, 2012
Seventy-five genetic loci influencing the human red blood cell.
Red blood cell traits 62,553 European ancestry individuals, 9,308 South Asian ancestry individuals 63,506 European ancestry individuals View full set of 45 SNPs Illumina, Affymetrix & Perlegen
[2,711,806] imputed
22q12.3 TMPRSS6, KCTD17 TMPRSS6 rs855791-G missense 0.57 1 x 10-69 (EA, MCH) .012 [0.0042-0.0198] unit increase
6p22.2 SLC17A3, HFE SLC17A1 - SLC17A3 rs1408272-G 0.07 5 x 10-67 (EA, MCH) .033 [0.015-0.051] unit increase
6p21.1 CCND3 CCND3 rs9349204-G intron 0.27 2 x 10-40 (EA, MCV) .367 [0.31-0.42] unit decrease
4q12 KIT PDGFRA - KIT rs218238-A 0.78 3 x 10-39 (EA, RBCC) .033 [0.027-0.039] unit increase
6q24.1 LOC645434, CITED2 CITED2 - ATP5F1P6 rs590856-G 0.43 5 x 10-36 (EA, MCV) .313 [0.26-0.36] unit increase
6q21 CCDC162P CCDC162P rs1008084-G intron 0.56 6 x 10-26 (EA, MCH) .01 [0.0041-0.0159] unit decrease
22q13.33 ODF3B, TYMP, NCAPH2, SCO2 ODF3B rs140522-C nearGene-5 0.67 5 x 10-23 (EA, MCV) .287 [0.23-0.35] unit increase
16p13.3 NPRL3, KIF22 NPRL3 rs11248850-G intron 0.5 6 x 10-23 (EA, MCH) .007 [-0.00084-0.01484] unit increase
16q24.3 FAM38A, PIEZO1 PIEZO1 rs10445033-G intron 0.37 2 x 10-22 (EA, MCHC) .02 [-0.00352-0.04352] unit increase
7q22.1 ACTL6B, TFR2 TFR2; ACTL6B rs2075672-A intron;nearGene-3 0.39 2 x 10-20 (EA, RBCC) .022 [0.016-0.028] unit increase

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