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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  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
07/12/10 Ramdas WD
June 10, 2010
PLoS Genet
A genome-wide association study of optic disc parameters.
Optic disc parameters 7,360 European ancestry individuals 4,455 European ancestry individuals 10q21.3 ATOH7,PBLD ATOH7 - KRT19P4 rs1900004-T 0.22 3 x 10-35 .07 [0.06-0.08] mm decrease Affymetrix and Illumina
[~2.5 million] (imputed)
N
1p22.1 CDC7,TGFBR3 RPL39P13 - HSP90B3P rs1192415-G 0.18 3 x 10-28 .06 [0.05-0.07] mm increase
16q12.1 SALL1 UNGP1 - HNRNPA1P48 rs1362756-C 0.28 5 x 10-9 .03 [0.02-0.04] mm increase
07/12/10 " Vertical cup-disc ratio 7,360 European ancestry individuals 4,455 European ancestry individuals 9p21.3 CDKN2B CDKN2B; CDKN2B-AS1 rs1063192-G UTR-3;intron 0.46 4 x 10-15 .01 [0.010-0.018] mm2 decrease Affymetrix and Illumina
[~2.5 million] (imputed)
N
14q23.1 SIX1 RPS15AP4 - SIX1 rs10483727-T 0.41 1 x 10-11 .01 [0.008-0.016] mm2 increase
11q13.1 SCYL1 MIR612 - MALAT1 rs17146964-G 0.20 4 x 10-9 .01 [0.01-0.02] mm2 decrease
13q13.3 DCLK1 DCLK1 rs1926320-C intron 0.24 1 x 10-8 .01 [0.010-0.014] mm2 increase
22q12.1 CHEK2 CHEK2 rs1547014-T intron 0.29 1 x 10-8 .01 [0.007-0.015] mm2 decrease
10q21.3 ATOH7, PBLD ATOH7 - KRT19P4 rs1900004-T 0.22 2 x 10-8 .01 [0.009-0.017] mm2 decrease
17q23.2 BCAS3 BCAS3 rs8068952-G intron 0.23 3 x 10-8 .01 [0.008-0.016] mm2 decrease
1p36.23 RERE RERE rs12025126-C intron 0.29 6 x 10-8 .01 [0.007-0.015] mm2 decrease
19p13.3 ARID3A ARID3A rs2159128-G intron 0.13 3 x 10-7 .02 [0.01-0.03] mm2 decrease




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