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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
11/07/14 Figueiredo JC
April 17, 2014
PLoS Genet
Genome-wide diet-gene interaction analyses for risk of colorectal cancer.
Colorectal cancer (diet interaction) 9,287 European ancestry cases, 9,117 European ancestry controls NA 7q36.2 DPP6 DPP6 rs12534701-? intron 0.54-0.62 2 x 10-6 (Fiber) 1.17 [1.09-1.24] Illumina & Affymetrix
[>2.7 million] (Imputed)
N
10/23/14 Wolf EJ
March 27, 2014
Depress Anxiety
A genome-wide association study of clinical symptoms of dissociation in a trauma-exposed sample.
Post-traumatic stress disorder 484 European ancestry trauma-exposed individuals NA 7q36.2 DPP6 DPP6 rs71534169-? intron 4 x 10-6 1.63 [0.94-2.32] unit increase Illumina
[1,197,702]
N
07/31/13 Jeff JM
March 28, 2013
Ann Hum Genet
Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.
QT interval 455 African American individuals NA 7q36.2 DPP6 DPP6 rs12666280-C intron 2 x 10-6 8.93 [NR] ms increase Illumina
[>930,000]
N
09/16/11 Tanaka S
August 09, 2011
Pharmacogenomics J
DPP6 as a candidate gene for neuroleptic-induced tardive dyskinesia.
Tardive dyskinesia 61 Japanese ancestry schizophrenic cases, 61 Japanese ancestry cases schizophrenic controls 36 Japanese ancestry schizophrenic cases, 138 Japanese ancestry schizophrenic controls 7q36.2 DPP6 DPP6 rs6977820-? intron NR 5 x 10-6 2.32 [1.61-3.34] Illumina
[257,704]
N
09/10/10 Low SK
July 29, 2010
PLoS One
Genome-wide association study of pancreatic cancer in Japanese population.
Pancreatic cancer 991 Japanese ancestry cases, 5,209 Japanese ancestry controls NA 7q36.2 DPP6 DPP6 rs6464375-A intron 0.10 4 x 10-7 (recessive) 3.73 [2.24-6.21] Illumina
[420,236]
N
12/09/08 Cronin S
November 05, 2008
Eur J Hum Genet
Screening for replication of genome-wide SNP associations in sporadic ALS.
Amyotrophic lateral sclerosis 958 European ancestry cases, 932 European ancestry controls 309 European ancestry cases, 404 European ancestry controls 7q36.2 DPP6 DPP6 rs10260404-C intron 0.35 3 x 10-6 1.37 [1.20-1.56] Illumina
[287,522]
N
11/25/08 van Es MA
December 16, 2007
Nat Genet
Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis 737 European ancestry cases, 721 European ancestry controls 1,030 European ancestry cases, 1,195 European ancestry controls 7q36.2 DPP6 DPP6 rs10260404-C intron 0.35 5 x 10-8 1.3 [1.18-1.43] Illumina
[311,946]
N
11/25/08 Cronin S
December 07, 2007
Hum Mol Genet
A genome-wide association study of sporadic ALS in a homogenous Irish population.
Amyotrophic lateral sclerosis 221 Genetically Homogenous Irish cases, 211 Genetically Homogenous Irish controls 737 European ancestry cases, 721 European ancestry controls 7q36.2 DPP6 DPP6 rs10260404-? intron 0.37 3 x 10-6 1.37 [1.20-1.56] Illumina
[497,917]
N




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