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
01/12/09 Kathiresan S
December 07, 2008
Nat Genet
Common variants at 30 loci contribute to polygenic dyslipidemia.
HDL cholesterol 19,840 European ancestry individuals Up to 20,623 European ancestry individuals View full set of 14 SNPs Affymetrix and Illumina
[~2,600,000] (imputed)
N
16q13 CETP HERPUD1 - CETP rs173539-T 0.32 4 x 10-75 .25 [0.21-0.29] s.d. increase
8p21.3 LPL LPL - RPL30P9 rs12678919-G 0.10 2 x 10-34 .23 [0.17-0.29] s.d. increase
15q21.3 LIPC LOC102724766 rs10468017-T intron 0.30 8 x 10-23 .1 [0.06-0.14] s.d. increase
18q21.1 LIPG LIPG - SMUG1P1 rs4939883-T 0.17 7 x 10-15 .14 [0.10-0.18] s.d. decrease
16q22.1 LCAT NUTF2 rs2271293-A intron 0.11 9 x 10-13 .07 [0.01-0.13] s.d. increase
11q23.3 APOA1, APOC3, APOA4, APOA5 ZPR1 rs964184-G intron 0.14 1 x 10-12 .17 [0.11-0.23] s.d. decrease
11q12.2 FADS1, FADS2, FADS3 FADS1 rs174547-C intron 0.33 2 x 10-12 .09 [0.05-0.13] s.d. decrease
12q24.11 MMAB,MVK KCTD10 rs2338104-C intron 0.45 1 x 10-10 .07 [0.03-0.11] s.d. decrease
9p22.3 TTC39B TTC39B rs471364-C intron 0.12 3 x 10-10 .08 [0.02-0.14] s.d. decrease
20q13.12 HNF4A HNF4A rs1800961-T missense 0.03 8 x 10-10 .19 [0.09-0.29] s.d. decrease
01/12/09 " LDL cholesterol 19,840 European ancestry individuals Up to 20,623 European ancestry individuals View full set of 11 SNPs Affymetrix and Illumina
[~2,600,000] (imputed)
N
1p13.3 CELSR2, PSRC1, SORT1 CELSR2 rs12740374-T UTR-3 0.21 2 x 10-42 .23 [0.19-0.27] s.d. decrease
2p24.1 APOB APOB - TDRD15 rs515135-T 0.20 5 x 10-29 .16 [0.12-0.20] s.d. decrease
19q13.32 APOE, APOC1, APOC4, APOC2 APOC1 rs4420638-G nearGene-3 0.16 4 x 10-27 .29 [0.17-0.41] s.d. increase
19p13.2 LDLR LDLR rs6511720-T intron 0.10 2 x 10-26 .26 [0.18-0.34] s.d. increase
2p21 ABCG8 ABCG8 rs6544713-T intron 0.32 2 x 10-20 .15 [0.11-0.19] s.d. increase
5q13.3 HMGCR HMGCR rs3846663-T intron 0.38 8 x 10-12 .07 [0.03-0.11] s.d. increase
5q33.3 TIMD4, HAVCR1 APOOP1 - HAVCR1 rs1501908-G 0.37 1 x 10-11 .07 [0.03-0.11] s.d. decrease
20q12 MAFB LOC102724968 rs6102059-T intron 0.32 4 x 10-9 .06 [0.03-0.10] s.d. decrease
12q24.31 HNF1A RPL12P33 - HNF1A-AS1 rs2650000-A 0.36 2 x 10-8 .07 [0.03-0.11] s.d. increase
19p13.11 NCAN, CILP2, PBX4 SUGP1 rs10401969-C intron 0.06 2 x 10-8 .05 [-0.03-0.13] s.d. decrease
01/12/09 " Triglycerides 19,840 European ancestry individuals Up to 20,623 European ancestry individuals View full set of 11 SNPs Affymetrix and Illumina
[~2,600,000] (imputed)
N
11q23.3 APOA1, APOC3, APOA4, APOA5 ZPR1 rs964184-G intron 0.14 4 x 10-62 .3 [0.24-0.36] s.d. increase
8p21.3 LPL LPL - RPL30P9 rs12678919-G 0.10 2 x 10-41 .25 [0.19-0.31] s.d. decrease
2p23.3 GCKR GCKR rs1260326-T missense 0.45 2 x 10-31 .12 [0.08-0.16] s.d. increase
8q24.13 TRIB1 TRIB1 - LINC00861 rs2954029-T 0.44 3 x 10-19 .11 [0.07-0.15] s.d. decrease
7q11.23 MLXIPL BAZ1B rs714052-G intron 0.12 3 x 10-15 .16 [0.10-0.22] s.d. decrease
11q12.2 FADS1, FADS2, FADS3 FADS1 rs174547-C intron 0.33 2 x 10-14 .06 [0.02-0.10] s.d. increase
2p24.1 APOB C2orf43 - APOB rs7557067-G 0.22 9 x 10-12 .08 [0.04-0.12] s.d. decrease
19p13.11 NCAN,CILP2,PBX4 CILP2 - PBX4 rs17216525-T 0.07 4 x 10-11 .11 [0.05-0.17] s.d. decrease
20q13.12 PLTP PCIF1 rs7679-C UTR-3 0.19 7 x 10-11 .07 [0.03-0.11] s.d. increase
8p23.1 XKR6, AMAC1L2 XKR6 rs7819412-G intron 0.48 3 x 10-8 .04 [0.001-0.08] s.d. decrease




Top of page

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