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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
05/12/14 Willer CJ
October 06, 2013
Nat Genet
Discovery and refinement of loci associated with lipid levels.
Triglycerides 94,595 European ancestry individuals 93,982 European ancestry individuals 19p13.2 INSR INSR; LOC100996405 rs7248104-A intron;UTR-3 0.42 5 x 10-10 .022 [NR] mg/dL decrease NR (Imputed) N
05/14/13 Porcu E
February 07, 2013
PLoS Genet
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
Thyroid hormone levels up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males NA 19p13.2 INSR INSR; LOC100996405 rs4804416-T intron;nearGene-3 0.569 3 x 10-10 (TSH) .057 [0.039-0.075] unit decrease Illumina, Affymetrix
[~2.5 Million] (Imputed)
N
19p13.2 INSR INSR; LOC100996405 rs4804416-T intron;nearGene-3 0.569 2 x 10-6 (TSH - Females) .058 [0.034-0.082] unit decrease
03/15/13 Kottgen A
December 23, 2012
Nat Genet
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
Urate levels 49,825 European ancestry males, 60,522 European ancestry females Up to 32,813 European ancestry individuals 19p13.2 INSR INSR rs1035942-A intron 0.27 1 x 10-7 .029 [0.017-0.041] mg/dl increase Affymetrix, Illumina, Perlegen
[2,450,547] (imputed)
N
10/09/12 Shi Y
August 12, 2012
Nat Genet
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
Polycystic ovary syndrome 2,254 Han Chinese ancestry cases, 3,001 Han Chinese ancestry controls 8,226 Han Chinese ancestry cases, 7,578 Han Chinese ancestry controls 19p13.2 INSR INSR rs2059807-G intron 1.24 1 x 10-8 1.14 [NR] Affymetrix
[NR] (imputed)
N
04/13/11 Grassi MA
March 26, 2011
Hum Mol Genet
Genome-wide meta-analysis for severe diabetic retinopathy.
Diabetic retinopathy 973 European ancestry cases, 1,856 European ancestry controls NA 19p13.2 INSR, LOC100131165, LOC100128567 INSR rs2115386-C intron 0.55 3 x 10-6 1.12 [NR] Affymetrix & Illumina
[2,543,887] (imputed)
N
10/24/12 Lango Allen H
September 29, 2010
Nature
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
Height 133,653 European ancestry individuals 50,074 European ancestry individuals 19p13.2 INSR INSR rs891088-A intron 0.74 2 x 10-12 .029 [NR] unit decrease Affymetrix, Illumina
[2,834,208] (imputed)
N




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