Skip to main content

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.

For questions or comments about this page, send an e-mail to:

To view the PDF(s) on this page you will need Adobe Reader. Download Adobe Reader




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]
07/27/12 Prescott J
June 04, 2012
PLoS One
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
Estradiol levels 1,583 European ancestry female individuals NA 20q12 Intergenic ATG3P1 - HSPE1P1 rs6016142-T 0.11 6 x 10-8 .179 [NR] unit decrease Illumina
[~2.5 million] (imputed)
15q21.2 CYP19A1, MIR4713 CYP19A1; MIR4713 rs727479-C intron;nearGene-3 0.34 5 x 10-7 .107 [NR] unit decrease
2p23.1 EHD3 EHD3 rs597800-C intron 0.15 5 x 10-7 .148 [NR] unit decrease
7p14.3 FKBP14, PLEKHA8 PLEKHA8 rs10488084-C intron 0.08 2 x 10-6 .18 [NR] unit increase
11q12.3 BEST1, FTH1 RAB3IL1 - BEST1 rs2727261-T 0.09 3 x 10-6 .159 [NR] unit increase
18q22.3 ZNF407 ZNF407 - ZADH2 rs17056274-G 0.01 4 x 10-6 .658 [NR] unit increase
19q12 Intergenic TSHZ3 - THEG5 rs11880316-A 0.01 4 x 10-6 .414 [NR] unit increase
3p26.3 Intergenic CNTN6 - RPL23AP38 rs402675-A 0.50 6 x 10-6 .097 [NR] unit decrease
07/27/12 " Sex hormone-binding globulin levels 1,598 European ancestry female individuals NA 17p13.1 FXR2, SHBG, SAT2, ATP1B2 SAT2 - ATP1B2 rs727428-T 0.42 2 x 10-16 .126 [NR] unit decrease Illumina
[~2.5 million] (imputed)
5q14.3 Intergenic MEF2C-AS1 - MIR3660 rs10514317-T 0.12 7 x 10-7 .132 [NR] unit decrease
2q37.3 SNED1, MTERFD2 SNED1; MTERFD2 rs6721345-A missense;UTR-3 0.01 3 x 10-6 1.13 [NR] unit increase
1q23.3 Intergenic RNA5SP63 - NMNAT1P2 rs424950-C 0.48 5 x 10-6 .076 [NR] unit increase
17q22 Intergenic CCDC182 rs8077059-C nearGene-5 0.25 5 x 10-6 .081 [NR] unit decrease
3p12.3 Intergenic ROBO2 rs3849491-T intron 0.48 6 x 10-6 .073 [NR] unit decrease
10p15.1 Intergenic MIR6078 - LINC00702 rs10795130-G 0.13 7 x 10-6 .103 [NR] unit increase
16q12.2 FTO FTO rs12596210-C intron 0.12 9 x 10-6 .12 [NR] unit decrease
07/27/12 " Testosterone levels 1,589 European ancestry female individuals NA 1p36.12 Intergenic WNT4 - MIR4418 rs909814-T 0.39 9 x 10-7 .103 [NR] unit increase Illumina
[~2.5 million] (imputed)
4q35.2 Intergenic LINC01262 - FRG1 rs11132733-T 0.17 3 x 10-6 .225 [NR] unit decrease
17p12 MYOCD MYOCD rs9905820-G intron 0.42 4 x 10-6 .094 [NR] unit decrease
1q41 Intergenic MRPS18BP1 - ESRRG rs10495024-C 0.36 6 x 10-6 .103 [NR] unit decrease
1p33 CYP4B1 CYP4B1 rs12059860-C UTR-3 0.01 8 x 10-6 .619 [NR] unit increase

Top of page

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