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Division of Genomic Medicine

A Catalog of Published Genome-Wide Association Studies

NewUpdate (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. New


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]
07/01/14 Elks CE
November 21, 2010
Nat Genet
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
Menarche (age at onset) 86,142 European ancestry female individuals, 557 Old Order Amish female individuals, 1,103 Erasmus Rucphen female individuals Up to 12,813 European ancestry female individuals, 910 Val Borbera female individuals, 348 Orcadian female individuals, 338 Friuli Venezia Giulia female individuals, 322 Carlantino female individuals View full set of 42 SNPs Affymetrix & Illumina
[~2.5 million] (imputed)
6q16.3 LIN28B HACE1 - LINC00577 rs7759938-C 0.32 5 x 10-60 6.4 [5.62-7.18] week increase
9q31.2 TMEM38B SLC25A6P5 - MIR8081 rs2090409-A 0.31 2 x 10-33 4.7 [3.92-5.48] week decrease
7p14.1 INHBA SUGCT - INHBA rs1079866-G 0.15 6 x 10-14 3.9 [2.92-4.88] week increase
1q23.3 RXRG RXRG rs466639-T intron 0.13 1 x 10-13 4.2 [3.02-5.38] week decrease
3q13.32 Intergenic PTMAP8 - IGSF11 rs6438424-A 0.50 1 x 10-13 2.7 [1.92-3.48] week decrease
18q21.1 FUSSEL18 SKOR2 rs1398217-G intron 0.43 2 x 10-13 2.7 [1.92-3.48] week decrease
2q33.1 PLCL1 PLCL1 - SATB2 rs12617311-A 0.32 6 x 10-13 3 [2.22-3.78] week decrease
17q21.33 CA10 RPL7P48 - CA10 rs9635759-A 0.32 7 x 10-13 3 [2.22-3.78] week decrease
11q24.1 BSX BSX - RPL34P23 rs6589964-A 0.48 2 x 10-12 2.7 [1.92-3.48] week decrease
9q31.3 ZNF483 ZNF483 rs10980926-A intron 0.36 4 x 10-11 2.5 [1.72-3.28] week increase

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