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
01/12/11 Furney SJ
November 30, 2010
Mol Psychiatry
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
Entorhinal cortical thickness Up to 434 European ancestry MCI cases, 245 European ancestry AD cases, 284 European ancestry controls NA 3p22.3 ARPP-21 LOC101928135 rs11129640-? intron NR 6 x 10-8 .1232 [NR] unit decrease (main effect) Illumina
[488,911]
N
12p12.1 CMAS ABCC9 - THEM4P1 rs10743430-? NR 6 x 10-7 .2181 [NR] unit decrease (main effect)
18q21.2 ME2 RPL17P46 - ME2 rs732528-? NR 7 x 10-6 .1106 [NR] unit decrease (main effect)
8p21.3 DOK2 GFRA2 rs17581368-? intron NR 7 x 10-6 .0896 [NR] unit decrease (main effect)
9p21.3 TUSC1 IZUMO3 - TUSC1 rs17774966-? NR 8 x 10-6 .153 [NR] unit increase (interaction)
11q23.2 NCAM1 NCAM1 rs12279261-? intron NR 9 x 10-6 .1116 [NR] unit decrease (main effect)
01/12/11 " MRI atrophy measures Up to 434 European ancestry MCI cases, 245 European ancestry AD cases, 284 European ancestry controls NA View full set of 13 SNPs Illumina
[488,911]
N
6q14.3 ZNF292 ZNF292 rs1925690-? intron NR 3 x 10-8 (entorhinal cortical volume) .0003 [NR] unit increase (interaction)
6p25.1 F13A1 F13A1 rs749005-? intron NR 3 x 10-7 (entorhinal cortical volume) .0002 [NR] unit decrease (main effect)
11q22.2 YAP1, BIRC3 YAP1 - RPS6P17 rs2852894-? NR 1 x 10-6 (whole-brain volume) .0163 [NR] unit decrease (interaction)
14q12 STXBP6 GZMB - STXBP6 rs854384-? NR 1 x 10-6 (total hippocampal volume) .0002 [NR] unit increase (main effect)
10p12.1 MPP7 MPP7 rs927675-? intron NR 2 x 10-6 (total hippocampal volume) .0002 [NR] unit increase (main effect)
1p31.1 SLC44A5 SLC44A5 rs1857353-? intron NR 2 x 10-6 (Whole-brain volume) .0156 [NR] unit decrease (interaction)
10p13 CUBN CUBN rs6602175-? intron NR 3 x 10-6 (whole-brain volume) .0075 [NR] unit decrease (main effect)
3q21.3 PLXNA1 C3orf56 - TPRA1 rs9871760-? NR 4 x 10-6 (whole-brain volume) .0074 [NR] unit decrease (main effect)
7p15.3 DNAH11 DNAH11 rs368331-? intron NR 4 x 10-6 (whole-brain volume) .0207 [NR] unit decrease (main effect)
8q12.3 RLBP1L1 CLVS1 rs903027-? intron NR 6 x 10-6 (whole-brain volume) .0087 [NR] unit decrease (main effect)
01/12/11 " Total ventricular volume Up to 434 European ancestry MCI cases, 245 European ancestry AD cases, 284 European ancestry controls NA View full set of 19 SNPs Illumina
[488,911]
N
1q24.2 SELP SELP - SELL rs1569476-? NR 3 x 10-7 .0032 [NR] unit increase (main effect)
1q31.3 KCNT2 EEF1A1P14 - KCNT2 rs7517337-? NR 2 x 10-6 .0029 [NR] unit increase (main effect)
2p22.2 CDC42EP3 CDC42EP3 - LINC00211 rs4670766-? NR 2 x 10-6 .0053 [NR] unit decrease (interaction)
6p21.1 NCR2 NCR2 rs9471576-? intron NR 2 x 10-6 .0093 [NR] unit increase (main effect)
7p15.3 DNAH11 DNAH11 rs368331-? intron NR 2 x 10-6 .0095 [NR] unit increase (main effect)
8q24.22 ADCY8 ADCY8 rs263238-? intron NR 2 x 10-6 .0057 [NR] unit increase (interaction)
12p13.1 GRIN2B GRIN2B rs4764039-? intron NR 3 x 10-6 .0049 [NR] unit increase (main effect)
14q22.1 FRMD6 SETP2 - FRMD6-AS2 rs7153703-? NR 3 x 10-6 .0061 [NR] unit increase (main effect)
15q22.2 RORA RORA rs3784609-? intron NR 3 x 10-6 .0047 [NR] unit decrease (interaction)
3p26.3 CNTN4 RPL23AP39 - RPL21P17 rs10510217-? NR 3 x 10-6 .0041 [NR] unit increase (main effect)




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