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
10/16/11 Soler Artigas M
September 25, 2011
Nat Genet
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
Pulmonary function 48,201 European ancestry individuals 46,411 European ancestry individuals View full set of 18 SNPs Affymetrix & Illumina
[~2.5 million] (imputed)
N
1p36.13 MFAP2 MFAP2 rs2284746-G intron 0.52 8 x 10-16 (FEV1/FVC) .04 [0.030-0.050] unit decrease
3p24.2 RARB RARB rs1529672-C intron 0.83 4 x 10-14 (FEV1/FVC) .048 [0.036-0.060] unit decrease
10p13 CDC123 CDC123 rs7068966-T intron 0.52 6 x 10-13 (FEV1/FVC) .033 [0.023-0.043] unit increase
2q37.3 HDAC4 FLJ43879 - HDAC4 rs12477314-T 0.20 2 x 10-12 (FEV1/FVC) .041 [0.029-0.053] unit increase
12q23.1 CCDC38 CCDC38 rs1036429-T intron 0.20 2 x 10-11 (FEV1/FVC) .038 [0.026-0.050] unit increase
16q23.1 CFDP1 CFDP1 rs2865531-T intron 0.42 2 x 10-11 (FEV1/FVC) .031 [0.021-0.041] unit increase
6p21.33 NCR3 TRNAI25 rs2857595-G 0.81 2 x 10-10 (FEV1/FVC) .037 [0.025-0.049] unit increase
6q21 ARMC2 ARMC2 rs2798641-T intron 0.18 8 x 10-9 (FEV1/FVC) .041 [0.027-0.055] unit decrease
12q13.3 LRP1 LRP1 rs11172113-T intron 0.61 1 x 10-8 (FEV1/FVC) .032 [0.020-0.044] unit decrease
1q41 TGFB2 TGFB2 - LYPLAL1 rs993925-T 0.31 1 x 10-8 (FEV1/FVC) .034 [0.022-0.046] unit increase
10/18/11 " Pulmonary function 48,201 European ancestry individuals 46,411 European ancestry individuals View full set of 15 SNPs Affymetrix & Illumina
[~2.5 million] (imputed)
N
10p13 CDC123 CDC123 rs7068966-T intron 0.52 3 x 10-12 (FEV1) .029 [0.021-0.037] unit increase
10q22.3 C10orf11 C10orf11 rs11001819-G intron 0.52 3 x 10-12 (FEV1) .029 [0.021-0.037] unit decrease
6p22.1 ZKSCAN3, ZNF323 ZKSCAN3 rs6903823-G intron 0.21 2 x 10-10 (FEV1) .037 [0.025-0.049] unit decrease
3q26.2 MECOM MECOM rs1344555-T intron 0.21 3 x 10-8 (FEV1) .034 [0.022-0.046] unit decrease
2q37.3 ASB1 ASB1 rs3769124-G intron NR 7 x 10-8 (FEV1) .047 [0.029-0.065] unit decrease
6p22.1 OR12D2 TRNAI25 rs3094548-G NR 1 x 10-7 (FEV1) .029 [0.019-0.039] unit decrease
2q37.3 HDAC4 FLJ43879 - HDAC4 rs12477314-T 0.20 1 x 10-7 (FEV1) .028 [0.018-0.038] unit increase
16q23.1 WWOX WWOX rs12716852-G intron NR 2 x 10-7 (FEV1) .025 [0.015-0.035] unit increase
6p21.33 MICB MICB rs2855812-T intron NR 2 x 10-7 (FEV1) .03 [0.018-0.042] unit decrease
15q25.1 CHRNA3 CHRNA3 rs12914385-T intron NR 5 x 10-7 (FEV1) .025 [0.015-0.035] unit decrease




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