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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
03/09/14 Teumer A
August 14, 2013
J Clin Periodontol
Genome-wide association study of chronic periodontitis in a general German population.
Periodontitis (DPAL) up to 2,501 European ancestry individuals NA 21q21.3 GRIK1 GRIK1 rs457352-T intron 0.13 7 x 10-6 (Age 20-60 years) .2401 [0.14-0.34] unit increase Affymetrix & Illumina
[up to 17,585,496] (Imputed)
N
06/06/13 Smoller JW
February 27, 2013
Lancet
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) 6,990 European ancestry Bipolar disorder cases, 9,227 European ancestry Major depressive disorder cases, 9,379 European ancestry Schizophrenia cases, 161 European ancestry Autism spectrum disorder cases, 4,788 European ancestry Autism spectrum disorder trio cases, 840 European ancestry Attention deficit-hyperactivity disorder cases, 1,947 European ancestry Attention defcit-hyperactivity disorder trio cases, 27,888 European ancestry controls NA 21q21.3 GRIK1 GRIK1 rs363598-C intron NR 5 x 10-6 (5 degree of freedom test) 1.006 [0.98-1.03] NR
[1,252,901] (imputed)
N
09/20/12 Li S
July 12, 2012
PLoS Genet
GWAS identifies novel susceptibility loci on 6p21.32 and 21q21.3 for hepatocellular carcinoma in chronic hepatitis B virus carriers.
Hepatocellular carcinoma 1,538 Han Chinese ancestry HBV-positive HCC cases, 1,465 Han Chinese ancestry chronic HBV carriers 4,431 Han Chinese ancestry HBV-positive HCC cases, 4,725 Han Chinese ancestry chronic HBV carriers 21q21.3 GRIK1 GRIK1 rs455804-C intron 0.66 5 x 10-10 1.19 [1.12-1.25] NR
[523,663]
N
04/18/12 Wang KS
March 16, 2012
Gene
A novel locus for body mass index on 5p15.2: a meta-analysis of two genome-wide association studies.
Body mass index 5,218 European ancestry individuals 762 European ancestry individuals 21q21.3 GRIK1 GRIK1 rs933117-A intron 0.08 6 x 10-6 .8491 [NR] unit decrease Illumina
[up to 520,531]
N
04/14/10 Barber MJ
March 22, 2010
PLoS One
Genome-wide association of lipid-lowering response to statins in combined study populations.
Response to statin therapy 3,928 European ancestry individuals NA 21q21.3 GRIK1, CLDN17, CLDN8 GRIK1-AS1 - CLDN17 rs9305406-G 0.2 8 x 10-6 (Triglyceride, sum) NR Illumina
[~2.5 million](imputed)
N
05/07/09 Lasky-Su J
December 05, 2008
Am J Med Genet B Neuropsychiatr Genet
Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
Hyperactive-impulsive symptoms 930 European ancestry trios NA 21q21.3 GRIK1 GRIK1 rs363512-? intron NR 4 x 10-6 (binary) NR Perlegen
[429,981]
N
11/25/08 Murabito JM
September 19, 2007
BMC Med Genet
A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.
Breast cancer 58 cases, 665 controls NA 21q21.3 GRIK1 GRIK1 rs458685-? intron NR 6 x 10-6 NR Affymetrix
[70,897]
N




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