Skip to main content
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
10/16/11 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




Top of page

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