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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]
11/25/08 Gudbjartsson DF
April 06, 2008
Nat Genet
Many sequence variants affecting diversity of adult human height.
Height 30,968 European ancestry individuals 8,541 European ancestry individuals View full set of 52 SNPs Illumina and Affymetrix
[up to 304,226]
3q23 ZBTB38 ZBTB38 rs6763931-A intron 0.45 1 x 10-27 7.4 [6.03-8.77] % s.d. taller
12q14.3 HMGA2 HMGA2 rs8756-C UTR-3 0.52 2 x 10-16 6.6 [5.03-8.17] % s.d. taller
7p22.3 GNA12 AMZ1 - GNA12 rs798544-G 0.72 7 x 10-15 5.9 [6.03-8.77] % s.d. taller
6q24.1 GPR126 GPR126 rs3748069-A nearGene-3 0.74 5 x 10-14 6.5 [5.44-9.36] % s.d. taller
4q31.21 HHIP HHIP rs1812175-C intron 0.86 1 x 10-11 8.3 [5.95-10.65] % s.d. taller
6p24.3 BMP6 RPL29P1 - BMP6 rs12198986-A 0.50 2 x 10-11 6.8 [4.84-8.76] % s.d. taller
2p16.1 EFEMP1, PNPT1 EFEMP1 rs3791679-T intron 0.81 6 x 10-11 5.8 [4.04-7.56] % s.d. taller
14q32.12 TRIP11, FBLN5, ATXN3, CPSF2 FBLN5 - TRIP11 rs7153027-A 0.52 1 x 10-10 5.7 [3.94-7.46] % s.d. taller
1q21.2 Histone class 2A,MTMR11, SV2A, SF3B4 SV2A - SF3B4 rs11205277-G 0.44 1 x 10-10 5.1 [3.53-6.67] % s.d. taller
4p15.31 LCORL, NCAPG LCORL rs6830062-T intron 0.89 1 x 10-10 6.3 [4.34-8.26] % s.d. taller

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