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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. 


Sound file Current uses of and future directions for the Genome-Wide Association Studies Catalog
On Thursday, July 18th, 2013, the Division of Genomic Medicine held a webinar to highlight current uses and explore  priorities and future directions for the GWAS catalog. See archived video and presentations.

The NHGRI GWAS Catalog, a curated resource of SNP-trait associationsPDF file
Click here to read our recent article from the Nucleic Acids Research Database Issue.

Potential etiologic and functional implications of genome-wide association loci for human diseases and traitsPDF file
Click here to read our Proceedings of the Academy of Sciences (PNAS) article on catalog methods and analysis.


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 listed here 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. Customized gene-based arrays without a clearly described GWAS backbone, including those selected to replicate published GWAS findings (e.g., Metabochip, Immunochip, etc.) are not eligible.  Publications are organized from most to least recent date of publication, indexing from online publication if available. Studies are identified through weekly PubMed literature searches, daily NIH-distributed compilations of news and media reports, and occasional comparisons with an existing database of GWAS literature (HuGE Navigator).

Gene names and risk alleles are those reported by the authors in the original paper. Only one SNP within a gene or region of high linkage disequilibrium is recorded unless there was evidence of independent association.

Occasionally the term "pending" is used to denote one or more studies that we identified as an eligible GWAS, but for which SNP information has not yet been extracted; studies of CNVs are also noted as pending

How to cite the NHGRI GWAS Catalog:
Hindorff LA, MacArthur J (European Bioinformatics Institute), Morales J (European Bioinformatics Institute), Junkins HA, Hall PN, Klemm AK, and Manolio TA. A Catalog of Published Genome-Wide Association Studies. Available at: Accessed [date of access].

How to cite the NHGRI GWAS Catalog paper:
Welter D, MacArthur J, Morales J, Burdett T, Hall P, Junkins H, Klemm A, Flicek P, Manolio T, Hindorff L, and Parkinson H. The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Research, 2014, Vol. 42 (Database issue): D1001-D1006.

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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]
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

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