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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
04/03/12 Kristiansson K
March 07, 2012
Circ Cardiovasc Genet
Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.
Metabolic syndrome 2,637 European ancestry cases, 7,927 European ancestry controls NA View full set of 22 SNPs Illumina
[1,257,079] (imputed)
N
16q13 CETP HERPUD1 - CETP rs247617-C 0.72 9 x 10-60 (HDL) .25 [NR] mmol/l decrease
11q23.3 ZNF259 ZPR1 rs964184-G intron 0.15 3 x 10-31 (TG) .23 [NR] mmol/l increase
2q31.1 G6PC2 G6PC2 rs560887-G intron 0.69 5 x 10-26 (GLU) .15 [NR] mmol/l increase
15q21.3 LIPC LOC102724766 rs1532085-G intron 0.57 5 x 10-24 (HDL) .13 [NR] mmol/l decrease
2p23.3 GCKR GCKR rs780094-A intron 0.36 6 x 10-20 (TG) .13 [NR] mmol/l increase
11q14.3 MTNR1B RPS3AP42 - MTNR1B rs10830962-G 0.40 5 x 10-16 (GLU) .12 [NR] mmol/l increase
8p21.3 LPL LPL - RPL30P9 rs7841189-C 0.90 1 x 10-14 (TG) .18 [NR] mmol/l increase
7p21.2 TMEM195, DGKB GTF3AP5 - AGMO rs6947830-A 0.46 1 x 10-13 (GLU) .1 [NR] mmol/l increase
7p13 GCK GCK - YKT6 rs3757840-A 0.46 4 x 10-13 (GLU) .1 [NR] mmol/l increase
8p21.3 LPL LPL rs268-G missense 0.02 2 x 10-12 (HDL) .38 [NR] mmol/l decrease




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