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NIH

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  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. 


The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog).
Read our recent article from Nucleic Acids Research.

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 in the Catalog 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. The scope of the GWAS Catalog is currently being expanded to include studies of large-scale targeted/non-genome-wide arrays, including the Metabochip, Immunochip and Exome arrays. This is currently in a pilot phase where prioritization of targeted and exome array studies for inclusion in the Catalog is by 1) relevance of the trait analyzed 2) user request.  

How to cite the NHGRI GWAS Catalog:
MacArthur J, Bowler E, Cerezo M, Gil L, Hall P, Hastings E, Junkins H, McMahon A, Milano A, Morales J, Pendlington Z, Welter D, Burdett T, Hindorff L, Flicek P, Cunningham F, and Parkinson H. The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog). Nucleic Acids Research, 2017, Vol. 45 (Database issue): D896-D901.

For questions or comments about this page, send an e-mail to: gwas_table@mail.nih.gov

 

 

 

 





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
08/07/09 Vasan RS
July 08, 2009
JAMA
Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
Aortic root size 12,612 European ancestry individuals 4,094 European ancestry individuals 5q23.2 CCDC100, PPIC PRDM6 - SUMO1P5 rs17470137-A 0.29 1 x 10-11 .03 [0.02-0.04] cm increase Affymetrix & Illumina
[~2.5 million] (imputed)
N
17p13.3 SMG6, SRR, TSR1, SGSM2 SMG6 rs10852932-T intron 0.36 2 x 10-11 .03 [0.02-0.04] cm increase
12q14.3 HMGA2 HMGA2 - MIR6074 rs4026608-C 0.38 2 x 10-9 .03 [0.02-0.04] cm decrease
12p12.2 PDE3A LOC100506393 rs10770612-G intron 0.19 2 x 10-8 .03 [0.02-0.04] cm increase
1p21.2 PALMD LPPR4 - PALMD rs7543130-A 0.49 1 x 10-7 .03 [0.02-0.04] cm increase
15q24.1 LOXL1 LOXL1 rs893817-G intron 0.34 3 x 10-6 .02 [0.01-0.03] cm increase
08/07/09 " Cardiac structure and function 12,612 European ancestry individuals 4,094 European ancestry individuals 6q22.31 SLC35F1, C6orf204, PLN SLC35F1 rs89107-G intron 0.50 1 x 10-9 (LV internal diastolic dimensions) .03 [0.02-0.04] cm decrease Affymetrix & Illumina
[~2.5 million] (imputed)
N
10q23.1 GRID1 GRID1 rs7910620-G intron 0.01 7 x 10-7 (LV wall thickness) .17 [0.11-0.23] cm increase
5q22.1 SLC25A46 TMEM232 rs17132261-T intron 0.02 9 x 10-7 (LV wall thickness) .06 [0.04-0.08] cm increase
16q23.1 WWOX WWOX rs2059238-A intron 0.22 3 x 10-6 (LV wall thickness) .02 [0.01-0.03] cm decrease




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