Division of Genomic Medicine

A Catalog of Published Genome-Wide Association Studies


NewUpdate (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. New


 

Sound file Current uses of and future directions for the Genome-Wide Association Studies Catalog
On Thursday, July 18th, 2013, the Division of Genomic Medicine held a webinar to highlight current uses and explore  priorities and future directions for the GWAS catalog. See archived video and presentations.

The NHGRI GWAS Catalog, a curated resource of SNP-trait associationsPDF file
Click here to read our recent article from the Nucleic Acids Research Database Issue.

Potential etiologic and functional implications of genome-wide association loci for human diseases and traitsPDF file
Click here to read our Proceedings of the Academy of Sciences (PNAS) article on catalog methods and analysis.

 

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 listed here 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. Customized gene-based arrays without a clearly described GWAS backbone, including those selected to replicate published GWAS findings (e.g., Metabochip, Immunochip, etc.) are not eligible.  Publications are organized from most to least recent date of publication, indexing from online publication if available. Studies are identified through weekly PubMed literature searches, daily NIH-distributed compilations of news and media reports, and occasional comparisons with an existing database of GWAS literature (HuGE Navigator).

Gene names and risk alleles are those reported by the authors in the original paper. Only one SNP within a gene or region of high linkage disequilibrium is recorded unless there was evidence of independent association.

Occasionally the term "pending" is used to denote one or more studies that we identified as an eligible GWAS, but for which SNP information has not yet been extracted; studies of CNVs are also noted as pending

How to cite the NHGRI GWAS Catalog:
Hindorff LA, MacArthur J (European Bioinformatics Institute), Morales J (European Bioinformatics Institute), Junkins HA, Hall PN, Klemm AK, and Manolio TA. A Catalog of Published Genome-Wide Association Studies. Available at: www.genome.gov/gwastudies. Accessed [date of access].

How to cite the NHGRI GWAS Catalog paper:
Welter D, MacArthur J, Morales J, Burdett T, Hall P, Junkins H, Klemm A, Flicek P, Manolio T, Hindorff L, and Parkinson H. The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Research, 2014, Vol. 42 (Database issue): D1001-D1006.

For questions or comments about this page, send an e-mail to: gwas_table@mail.nih.gov

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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