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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]
04/04/11 Bhatnagar P
February 17, 2011
J Hum Genet
Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.
F-cell distribution 440 African American individuals NA View full set of 11 SNPs Illumina
2p16.1[rs10189857]; 2p16.1[rs6545816] BCL11A NA 20-SNP haplotype cluster 3 0.254 2 x 10-16 1.98 [1.57-2.39] unit increase
2p16.1[rs10189857]; 2p16.1[rs6545816] BCL11A NA 20-SNP haplotype cluster 2 0.42 2 x 10-7 1.07 [0.68-1.46] unit increase
6q13 B3GAT2 B3GAT2 - LYPLA1P3 rs11968814-A 0.16 9 x 10-7 1.17 [0.70-1.64] unit decrease
5q22.2 TSSK1 MCC rs1318772-G intron 0.33 1 x 10-6 .91 [0.54-1.28] unit decrease
1q41 MOSC1 HLX-AS1 rs12073837-T intron 0.19 2 x 10-6 1.39 [0.82-1.96] unit increase
Xp22.11 PHEX PHEX rs12559632-A intron 0.25 3 x 10-6 1.16 [0.69-1.63] unit decrease
4q27 PRDM5 SAR1AP3 - PRDM5 rs10017284-G 0.43 6 x 10-6 .85 [0.50-1.20] unit decrease
7q34 ATP6V0A4 ATP6V0A4 rs3800569-C intron 0.13 6 x 10-6 1.2 [0.69-1.71] unit increase
4q27 MAD2L1 PDE5A - MAD2L1 rs1845344-T 0.27 7 x 10-6 .97 [0.56-1.38] unit increase
2p24.1 UBXD4 RNA5SP87 - KLHL29 rs2577720-C 0.33 8 x 10-6 .82 [0.47-1.17] unit decrease

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