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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
05/02/13 Martinelli-Boneschi F
January 29, 2013
Neurobiol Aging
Pharmacogenomics in Alzheimer's disease: a genome-wide association study of response to cholinesterase inhibitors.
Response to cholinesterase inhibitors in Alzheimer's disease 92 European ancestry cases, 77 European ancestry controls 94 European ancestry cases, 74 European ancestry controls 3q24 SLC9A9 SLC9A9 rs17636071-G intron 0.09 2 x 10-6 (MMSE) 4.74 [NR] unit decrease Illumina
[522,109]
N
07/21/12 Turner ST
May 07, 2012
Hypertension
Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.
Response to angiotensin II receptor blocker therapy 198 European ancestry hypertensive individuals, 193 African American hypertensive individuals NA 3q24 SLC9A9 SLC9A9 rs2166775-G intron NR 3 x 10-6 (EA) .99 [0.54-1.44] unit increase Affymetrix
[~2.3 million] (imputed)
N
09/24/10 Chalasani N
August 10, 2010
Gastroenterology
Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
Non-alcoholic fatty liver disease histology (other) 236 European ancestry cases NA 3q24 SLC9A9 SLC9A9 rs2800-G intron 0.34 3 x 10-6 (ALT) .61 [NR] unit increase Illumina
[324,623]
N
09/07/10 Mick E
May 14, 2010
J Am Acad Child Adolesc Psychiatry
Family-based genome-wide association scan of attention-deficit/hyperactivity disorder.
Attention deficit hyperactivity disorder 735 trios from 732 families NA 3q24 SLC9A9 PBX2P1 - SLC9A9 rs9810857-T 0.49 6 x 10-6 1.41 [NR] Illumina
[835,136]
N
11/25/08 Levy D
September 19, 2007
BMC Med Genet
Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.
Tonometry 644 individuals NA 3q24 SLC9A9 SLC9A9 rs1371924-? intron NR 4 x 10-6 (RWLTA) NR Affymetrix
[70,897]
N




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