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  http://www.ebi.ac.uk/gwas. Users may now find the new search interface and updated content at this site.  Questions about the GWAS Catalog may be directed to gwas-info@ebi.ac.uk.

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: www.genome.gov/gwastudies. 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: gwas_table@mail.nih.gov

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Notice: The updated Catalog content may now be searched at http://www.ebi.ac.uk/gwas/.

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]
Platform
[SNPs passing QC]
CNV
02/14/13 Velez Edwards DR
November 29, 2012
Hum Genet
Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
Body mass index (interaction) 8,203 African American females, 3,484 Hispanic ancestry females NA View full set of 15 SNPs Affymetrix
[706,791]
N
14q32.13 RPL15P2, DICER1 RPL15P2 - DICER1 rs10133840-C NR 4 x 10-7 (Dietary energy) .01 [NR] unit decrease
14q22.3 LOC645687, PELI2 LINC00520 - PELI2 rs7350721-C 0.09 6 x 10-7 (AA, smoking, years) .41 [0.25-0.58] unit increase
9q21.11 LOC347097, PIP5K1B TMEM252 - PIP5K1B rs7864204-A 0.44 9 x 10-7 (AA, Recreational physical activity) .04 [0.02-0.06] unit decrease
7q36.1 CNTNAP2 CNTNAP2 rs4549702-G intron 0.40 1 x 10-6 (AA, Dietary energy) .02 [0.01-0.03] unit increase
7q36.1 CNTNAP CNTNAP2 rs4549702-G intron 0.34 1 x 10-6 (Hispanic, Recreational Physical Activity) .01 [0.01-0.02] unit decrease
17q25.1 SLC39A11 SLC39A11 rs4969049-C intron 0.17 1 x 10-6 (Hispanic, Smoking, ever/never) .004 [.002-0.01] unit increase
14q32.13 RPL15P2, DICER1 RPL15P2 - DICER1 rs10133840-C 0.14 1 x 10-6 (Hispanic, Dietary energy) .01 [0.005-0.01] unit decrease
6q23.2 SGK1, LOC442261 SGK1 rs1763500-C intron NR 2 x 10-6 (Smoking, years) .26 [NR] unit increase
14q22.3 LOC645687, PELI2 LINC00520 - PELI2 rs7350721-C 0.09 2 x 10-6 (AA, Smoking, ever/never) .02 [0.01-0.02] unit increase
14q32.31 LOC100128373, DIO3OS MEG9 - DIO3OS rs8008758-A 0.25 3 x 10-6 (AA, Alcohol intake) .39 [0.23-0.55] unit increase
02/14/13 " Waist-to-hip circumference ratio (interaction) 8,203 African American females, 3,484 Hispanic ancestry females NA View full set of 14 SNPs Affymetrix
[706,791]
N
13q33.1 ITGBL1 ITGBL1 rs9557704-A intron 0.13 2 x 10-7 (AA, Dietary energy) .04 [0.03-0.06] unit decrease
Xp22.2 MOSPD2, LOC100128521 MOSPD2 - TPT1P14 rs5980075-T 0.47 5 x 10-7 (Hispanic, Dietary energy) .04 [0.03-0.06] unit increase
10q26.3 MGMT MGMT rs11016883-C intron 0.25 9 x 10-7 (AA, Smoking, Ever/Never) .01 [0.01-0.02] unit increase
3p24.3 ZNF385D, LOC728516 ZNF385D rs1388551-A intron 0.17 2 x 10-6 (AA, Recreational physical activity) .07 [0.04-0.10] unit decrease
3q12.3 LOC152225, ZPLD1 NFKBIZ - ZPLD1 rs10212363-A 0.22 2 x 10-6 (Hispanic, Alcohol intake) .73 [0.43-1.02] unit increase
5q13.1 LOC359819, EE F1B3 RPL21P55 - EEF1B2P2 rs10067755-C NR 2 x 10-6 (Smoking, Years) .12 [NR] unit decrease
1p21.1 CDK4PS, LOC727839 SEPT2P1 - NDE1P1 rs11184708-T 0.13 2 x 10-6 (Hispanic, Smoking, ever/never) .03 [0.02-0.04] unit increase
11q21 MAML2 MAML2 rs11021499-A intron NR 2 x 10-6 (Alcohol intake) .39 [NR] unit decrease
1p34.3 POU3F1, LOC400750 MIR3659 - TUBB6P1 rs11802770-T NR 3 x 10-6 (Smoking, ever/never) .01 [NR] unit increase
19q13.32 BCAM, PVRL2 BCAM - PVRL2 rs1871045-T 0.39 4 x 10-6 (Hispanic, Smoking, Years) .52 [0.30-0.74] unit increase




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