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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
11/25/08 Kathiresan S
January 13, 2008
Nat Genet
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
HDL cholesterol 2,758 individuals 18,544 individuals 16q13 CETP CETP rs1800775-C nearGene-5 0.51 1 x 10-73 .18 [0.16-0.20] % SD lower Affymetrix
[389,878]
N
15q21.3 LIPC LIPC; LOC102724766 rs1800588-T intron;nearGene-5 0.21 2 x 10-32 .14 [0.12-0.16] % SD higher
8p21.3 LPL LPL rs328-G STOP-GAIN 0.09 9 x 10-23 .17 [0.13-0.21] % SD higher
1q42.13 GALNT2 GALNT2 rs4846914-G intron 0.40 2 x 10-13 .07 [0.05-0.09] % SD lower
9q31.1 ABCA1 ABCA1 rs3890182-A intron 0.13 3 x 10-10 .1 [0.06-0.14] % SD lower
18q21.1 LIPG, ACAA2 SMUG1P1 - ACAA2 rs2156552-A 0.18 2 x 10-7 .07 [0.05-0.09] % SD lower
11/25/08 " LDL cholesterol 2,758 European ancestry individuals 18,544 European ancestry individuals 19q13.32 APOE, APOC1, APOC4, APOC2 APOC1 rs4420638-G nearGene-3 0.20 1 x 10-60 .19 [0.15-0.23] % SD higher Affymetrix
[389,878]
N
19p13.2 LDLR LDLR rs6511720-T intron 0.10 2 x 10-51 .26 [0.22-0.30] % SD lower
1p32.3 PCSK9 PCSK9 rs11591147-T missense 0.01 2 x 10-44 .47 [0.41-0.53] % SD lower
1p13.3 CELSR2,PSRC1,SORT1 CELSR2 rs646776-C nearGene-3 0.24 3 x 10-29 .16 [0.14-0.18] % SD lower
2p24.1 APOB APOB rs693-A cds-synon 0.48 1 x 10-21 .12 [0.10-0.14] % SD higher
5q13.3 HMGCR HMGCR rs12654264-T intron 0.39 1 x 10-20 .1 [0.08-0.12] % SD higher
19p13.11 CILP2, PBX4 CILP2 - PBX4 rs16996148-T 0.10 3 x 10-8 .1 [0.06-0.14] % SD lower
11/25/08 " Triglycerides 2,758 individuals 18,544 individuals 8p21.3 LPL LPL rs328-G STOP-GAIN 0.09 2 x 10-28 .19 [0.15-0.23] % SD lower Affymetrix
[389,878]
N
7q11.23 BCL7B, TBL2, MLXIPL TBL2 rs17145738-T nearGene-3 0.13 7 x 10-22 .14 [0.25-0.53] % SD lower
11q23.3 APOA1, APOC3, APOA4, APOA5, ZNF259, BUD13 BUD13 rs28927680-G ncRNA 0.07 2 x 10-17 .26 [0.20-0.32] % SD higher
8q24.13 TRIB1 TRIB1 - LINC00861 rs17321515-G 0.49 4 x 10-17 .08 [0.06-0.10] % SD lower
1q42.13 GALNT2 GALNT2 rs4846914-G intron 0.40 7 x 10-15 .08 [0.06-0.10] % SD higher
2p23.3 GCKR GCKR rs780094-T intron 0.34 3 x 10-14 .13 [0.09-0.17] % SD higher
19p13.11 CILP2, PBX4 CILP2 - PBX4 rs16996148-T 0.10 4 x 10-9 .1 [0.06-0.14] % SD lower
1p31.3 ANGPTL3, DOCK7, ATG4C RPL13AP9 - ATG4C rs12130333-T 0.22 2 x 10-8 .11 [0.07-0.15] % SD lower
2p24.1 APOB APOB rs693-A cds-synon 0.48 2 x 10-7 .08 [0.04-0.12] % SD higher




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