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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
11/16/12 Gieger C
November 30, 2011
Nature
New gene functions in megakaryopoiesis and platelet formation.
Mean platelet volume 16,948 European ancestry individuals, 1,652 Val Borbera individuals Up to 18,838 European ancestry individuals View full set of 29 SNPs Affymetrix & Illumina
[~2.5 million] (imputed)
N
12q24.31 WDR66 WDR66 rs7961894-T intron NR 1 x 10-103 .03 [0.028-0.032] ln(fl) increase
7q22.3 FLJ36031,PIK3CG CCDC71L - RNA5SP236 rs342293-G NR 7 x 10-57 .017 [0.015-0.019] ln(fl) increase
3p14.3 ARHGEF3 ARHGEF3 rs1354034-T intron NR 3 x 10-69 .023 [0.021-0.025] ln(fl) increase
10q21.3 JMJD1C JMJD1C rs7075195-A intron NR 2 x 10-44 .014 [0.012-0.016] ln(fl) increase
17q11.2 TAOK1 RPL35AP35 - MIR4523 rs8076739-T NR 5 x 10-38 .013 [0.011-0.015] ln(fl) increase
1q32.1 TMCC2 TMCC2 - NUAK2 rs1172130-G NR 4 x 10-27 .011 [0.009-0.013] ln(fl) increase
1q24.3 DNM3 DNM3 rs10914144-C intron NR 1 x 10-24 .014 [0.012-0.016] ln(fl) increase
12p13.31 CD9,VWF VWF - CD9 rs1558324-A NR 2 x 10-21 .01 [0.008-0.012] ln(fl) increase
12p11.22 MLSTD1 FAR2; LOC100506606 rs2015599-A intron;intron NR 6 x 10-16 .008 [0.006-0.01] ln(fl) increase
5q13.3 F2R F2R rs2227831-G intron NR 1 x 10-15 .021 [0.015-0.027] ln(fl) increase
11/16/12 " Platelet counts 47,005 European ancestry individuals, 1,661 Val Borbera individuals Up to 18,838 European ancestry individuals View full set of 56 SNPs Affymetrix & Illumina
[~2.5 million] (imputed)
N
6q23.3 HBS1L,MYB MIR3662 - MYB rs9399137-C NR 5 x 10-47 5.901 [5.1-6.7] 10^9/l increase
3p14.3 ARHGEF3 ARHGEF3 rs1354034-C intron NR 3 x 10-54 6.848 [5.98-7.71] 10^9/l increase
9p24.1 AK3 AK3 - ECM1P1 rs409801-C NR 3 x 10-49 5.585 [4.84-6.33] 10^9/l increase
6p21.31 BAK1 BAK1 rs210134-G nearGene-3 NR 7 x 10-36 4.957 [4.18-5.73] 10^9/l increase
9p24.1 RCL1 RCL1 rs13300663-C intron NR 1 x 10-29 5.585 [4.64-6.53] 10^9/l increase
12q24.12 SH2B3 SH2B3 rs3184504-T missense NR 1 x 10-26 3.99 [3.26-4.72] 10^9/l increase
7q22.3 FLJ36031,PIK3CG CCDC71L - RNA5SP236 rs342275-C NR 6 x 10-25 3.742 [3.03-4.45] 10^9/l increase
11p15.5 PSMD13,NLRP6 PSMD13 rs505404-G intron NR 7 x 10-25 4.662 [3.77-5.55] 10^9/l increase
10q21.3 JMJD1C JMJD1C rs10761731-T intron NR 2 x 10-24 3.849 [3.11-4.59] 10^9/l increase
17q11.2 TAOK1 TAOK1 rs559972-T intron NR 3 x 10-18 3.264 [2.53-4] 10^9/l increase




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