Skip to main content

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.

For questions or comments about this page, send an e-mail to:





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]
04/11/13 Estrada K
April 15, 2012
Nat Genet
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
Bone mineral density Up to 32,961 European and East Asian ancestry individuals Up to 50,933 European and East Asian ancestry individuals View full set of 69 SNPs Affymetrix & Illumina
[~2.5 million] (imputed)
5q14.3 MEF2C MEF2C-AS1 - MIR3660 rs1366594-A 0.54 4 x 10-61 (FNBMD) .08 [NR] unit increase
7q21.3 SLC25A13 C7orf76 rs4727338-C intron 0.67 8 x 10-48 (FNBMD) .08 [NR] unit increase
1p36.12 ZBTB40 MIR4418 - ZBTB40 rs6426749-C 0.17 7 x 10-57 (FNBMD) .11 [NR] unit increase
7q31.31 WNT16 WNT16 rs3801387-A intron 0.74 3 x 10-51 (LSBMD) .09 [NR] unit decrease
13q14.11 AKAP11 FABP3P2 - TNFSF11 rs9533090-T 0.49 5 x 10-68 (LSBMD) .1 [NR] unit decrease
1p31.3 WLS WLS; GNG12-AS1 rs12407028-T intron;intron 0.6 3 x 10-45 (LSBMD) .08 [NR] unit increase
8q24.12 TNFRSF11B COLEC10 rs2062377-A intron 0.57 3 x 10-39 (LSBMD) .08 [NR] unit decrease
7p14.1 STARD3NL EPDR1 - STARD3NL rs6959212-T 0.32 4 x 10-38 (LSBMD) .07 [NR] unit decrease
6q25.1 C6orf97 CCDC170 rs4869742-T intron 0.31 4 x 10-35 (LSBMD) .08 [NR] unit decrease
11p15.2 SOX6 LOC102724957 rs7108738-T intron 0.83 1 x 10-32 (FNBMD) .08 [NR] unit decrease

Top of page

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