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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]
11/20/12 Ahmeti KB
September 05, 2012
Neurobiol Aging
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
Amyotrophic lateral sclerosis 4,243 European ancestry cases, 5,112 European ancestry controls NA View full set of 15 SNPs Illumina
19p13.11 UNC13A UNC13A rs12608932-C intron 0.34 5 x 10-8 (Meta) 1.37 [1.21-1.56]
17p11.2 CENPV, PIGL CENPV; LOC102724483 rs7477-T UTR-3;nearGene-5 0.48 3 x 10-7 (Joint) 1.3 [1.16-1.44]
9p21.2 C9orf72 IFNK - C9orf72 rs3849942-A 0.23 4 x 10-7 (Joint) 1.21 [1.11-1.33]
16q24.1 KIAA0513 KIAA0513 rs8056742-C intron 0.11 5 x 10-7 (Joint) 1.27 [1.14-1.41]
2q35 STK36, TTLL4, ZNF142 STK36 rs2303565-C intron 0.43 6 x 10-7 (Meta) 1.17 [1.1-1.24]
18q11.2 LAMA3 LAMA3 rs11082762-A intron 0.36 7 x 10-7 (Joint) 1.16 [1.09-1.24]
17q11.2 Intergenic PPY2 - KRT18P55 rs2006933-? 0.25 9 x 10-7 (Meta) 1.2658 [1.16-1.37]
15q23 Intergenic MIR629 - UACA rs1971791-G 0.47 1 x 10-6 (Joint) 1.26 [1.14-1.4]
8q24.3 Intergenic MIR1302-7 - MIR4472-1 rs4917300-T 0.46 2 x 10-6 (Joint) 1.27 [1.14-1.42]
13q14.11 Intergenic MIR8079 - SERP2 rs9533799-A 0.36 4 x 10-6 (Joint) 1.17 [1.09-1.24]
11/20/12 " Amyotrophic lateral sclerosis (age of onset) 4,243 European ancestry cases NA View full set of 13 SNPs Illumina
1p34.1 ST3GAL3 ST3GAL3 rs3011225-G intron 0.22 7 x 10-8 (Joint) NR
4p14 ARAP2 ARAP2 rs12651329-C intron 0.39 5 x 10-7 (Joint) NR
1q22 ARHGEF2 ARHGEF2 rs2364403-A intron 0.2 1 x 10-6 (Meta) NR
7q31.1 IFRD1 IFRD1 rs6956741-G intron 0.06 2 x 10-6 (Meta) NR
8p21.3 Intergenic RPL30P9 - SLC18A1 rs10503672-T 0.26 3 x 10-6 (Meta) NR
1p34.2 PTPRF PTPRF rs2819332-A intron 0.23 5 x 10-6 (Meta) NR
1p34.1 JMJD2A KDM4A rs669446-T intron 0.31 5 x 10-6 (Meta) NR
12q15 CNOT2 CNOT2 rs2904524-T intron 0.13 5 x 10-6 (Joint) NR
14q31.1 NRXN3 NRXN3 rs7147705-T intron 0.29 6 x 10-6 (Meta) NR
9q21.13 PCSK5 PCSK5 rs7047865-G intron 0.41 7 x 10-6 (Meta) NR

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