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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
10/30/09 Soranzo N
October 11, 2009
Nat Genet
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
Hematological parameters 4,627 European ancestry individuals 9,316 European ancestry individuals View full set of 12 SNPs Affymetrix and Illumina
[~2.11 million] (imputed)
N
6q23.3 HBS1L, MYB MIR3662 - MYB rs9402686-A NR 7 x 10-42 (MCV) .82 [0.70-0.94] fl increase
6p22.2 HFE HFE rs1800562-A missense NR 1 x 10-23 (MCV) 1.41 [1.13-1.69] fl increase
6p21.1 BYSL, CCND3 CCND3 rs11970772-T intron NR 7 x 10-19 (MCV) .58 [0.44-0.70] fl increase
9p24.1 AK3 AK3 - ECM1P1 rs385893-C NR 9 x 10-17 (PLT) 6.26 [4.78-7.74] 10^9/l increase
12q24.13 PTPN11 PTPN11 rs11066301-G intron NR 8 x 10-12 (PLT) 4.65 [3.32-5.98] 10^9/l increase
20q11.21 BAK1 NA rs210135-A NR 4 x 10-10 (PLT) 5.44 [3.74-7.14] 10^9/l increase
22q12.3 FBX07 BPIFC - FBXO7 rs9609565-G NR 4 x 10-10 (MCV) .37 [0.25-0.49] fl increase
7q22.1 TFR2 TFR2 rs7385804-C intron NR 5 x 10-10 (RBC) .01 [0.004-0.008] 10^12/l increase
22q12.3 TMPRSS6 TMPRSS6 rs5756506-C intron NR 1 x 10-9 (MCH) .14 [0.10-0.18] pg increase
17q21.1 GSDMA, ORMDL3 LRRC3C - GSDMA rs17609240-G NR 9 x 10-9 (WBC) .02 [0.01-0.03] 10^9/l increase
10/30/09 " Mean platelet volume 4,627 European ancestry individuals 9,316 European ancestry individuals View full set of 15 SNPs Affymetrix and Illumina
[~2.11 million] (imputed)
N
12q24.31 WDR66 WDR66 rs7961894-T intron NR 3 x 10-44 .03 [0.027-0.035] fl increase
7q22.3 PIK3CG CCDC71L - RNA5SP236 rs342293-G NR 2 x 10-33 .02 [0.013-0.017] fl increase
3p14.3 ARHGEF3 ARHGEF3 rs12485738-A intron NR 6 x 10-31 .02 [0.013-0.017] fl increase
17q11.2 TAOK1 RPL35AP35 - MIR4523 rs2138852-T NR 1 x 10-22 .02 [0.012-0.020] fl increase
10q21.3 JMJD1C JMJD1C; MIR1296 rs2393967-A intron;nearGene-5 NR 3 x 10-21 .01 [0.01-0.018] fl increase
1q32.1 TMCC2 TMCC2 rs1668873-G intron NR 1 x 10-20 .01 [0.01-0.014] fl increase
11p15.5 BET1L BET1L rs11602954-G intron NR 1 x 10-14 .01 [0.009-0.017] fl increase
1q24.3 DNM3 DNM3 rs10914144-C intron NR 2 x 10-14 .01 [0.009-0.017] fl increase
2p23.1 EHD3 EHD3 rs647316-A intron NR 3 x 10-11 .01 [0.006-0.014] fl increase
20p13 SIRPA SIRPA - PDYN rs6136489-T NR 8 x 10-11 .01 [0.006-0.014] fl increase




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