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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]
04/02/14 Brandler WM
September 12, 2013
PLoS Genet
Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.
Relative hand skill 2,666 European ancestry individuals NA Xq26.2 GPC3 RPSAP63 - TIMM8BP2 rs7883190-? 0.62 2 x 10-6 .12 [0.071-0.169] unit increase Illumina
20p12.2 LOC339593 FAT1P1 - RPS11P1 rs6040449-? 0.63 4 x 10-6 .14 [0.081-0.199] unit increase
20q13.2 Intergenic DOK5 - RPL12P4 rs13037755-? 0.71 5 x 10-6 .26 [0.15-0.37] unit increase
04/02/14 " Relative hand skill in reading disability 728 European ancestry individuals with reading disability NA 15q26.3 PCSK6, VIMP, LOC100507472, CHSY1, SNRPA1 PCSK6 rs7182874-T intron 0.71 9 x 10-9 .37 [0.24-0.50] unit decrease Illumina
1p12 Intergenic RNA5SP56 - PSMC1P12 rs10802047-? 0.38 2 x 10-6 .25 [0.15-0.36] unit decrease
16q21 Intergenic LOC102723560 rs2962462-? intron 0.56 2 x 10-6 .29 [0.17-0.41] unit increase
15q21.3 MNS1, TEX9 MNS1; TEX9 rs6493858-? intron;intron 0.41 4 x 10-6 .25 [0.14-0.35] unit increase
7p22.1 FBXL18, TNRC18, ACTB, MIR589 FBXL18 rs10216189-? intron 0.39 4 x 10-6 .24 [0.14-0.34] unit decrease
14q11.2 DAD1 LOC101929755 rs227869-? intron 0.32 4 x 10-6 .25 [0.14-0.36] unit decrease
17q24.3 LOC100499467, SLC39A11, LINC00511 LINC00673 rs718073-? intron 0.84 5 x 10-6 .35 [0.20-0.50] unit increase
17p13.1 MYH3, MAGOH2, SCO1, TMEM220, C17orf48 MYH3 - SCO1 rs169313-? 0.44 8 x 10-6 .25 [0.14-0.36] unit increase
11p13 PAMR1, SLC1A2 PAMR1 rs1996369-? intron 0.21 9 x 10-6 .27 [0.15-0.39] unit increase
3p25.3 VGLL4, ATG7 VGLL4 rs4684792-? intron 0.18 9 x 10-6 .28 [0.16-0.4] unit decrease

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