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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
01/25/12 Teslovich TM
August 05, 2010
Nature
Biological, clinical and population relevance of 95 loci for blood lipids.
Cholesterol, total 100,184 European ancestry individuals NA View full set of 52 SNPs Affymetrix, Illumina & Perlegen
[~2.6 million] (imputed)
N
1p13.3 CELSR2,PSRC1,SORT1 CELSR2 rs629301-G UTR-3 0.22 6 x 10-131 5.41 [4.94-5.88] mg/dL decrease
19q13.32 APOE,APOC1,APOC2 APOC1 rs4420638-G nearGene-3 0.17 5 x 10-111 6.83 [6.2-7.46] mg/dL increase
19p13.2 LDLR LDLR rs6511720-T intron 0.11 7 x 10-97 7.09 [6.42-7.76] mg/dL decrease
11q23.3 APOA1,APOC3,APOA4,APOA5 ZPR1 rs964184-G intron 0.13 6 x 10-57 4.68 [4.11-5.25] mg/dL increase
5q13.3 HMGCR HMGCR rs12916-C UTR-3 0.39 9 x 10-47 2.84 [2.45-3.23] mg/dL increase
2p24.1 APOB APOB rs1367117-A missense 0.3 4 x 10-96 4.16 [3.73-4.59] mg/dL increase
2p21 ABCG5,ABCG8 ABCG8 rs4299376-G intron 0.3 4 x 10-45 3.01 [2.58-3.44] mg/dL increase
1p31.3 ANGPTL3,DOCK7 DOCK7 rs2131925-G intron 0.32 5 x 10-41 2.6 [2.21-2.99] mg/dL decrease
19p13.11 CSPG3,CILP2,PBX4 SUGP1 rs10401969-C intron 0.07 3 x 10-38 4.74 [3.92-5.56] mg/dL decrease
8q24.13 TRIB1 TRIB1 - LINC00861 rs2954029-A 0.46 5 x 10-36 2.3 [1.93-2.67] mg/dL decrease
01/25/12 " HDL cholesterol 99,900 European ancestry individuals NA View full set of 47 SNPs Affymetrix, Illumina & Perlegen
[~2.6 million] (imputed)
N
15q21.3 LIPC LOC102724766 rs1532085-A intron 0.39 3 x 10-96 1.45 [1.29-1.61] mg/dL increase
18q21.1 LIPG LIPG - SMUG1P1 rs7241918-G 0.17 3 x 10-49 1.31 [1.11-1.51] mg/dL decrease
11q23.3 APOA1,APOC3,APOA4,APOA5 ZPR1 rs964184-G intron 0.13 5 x 10-47 1.5 [1.28-1.72] mg/dL decrease
16q13 CETP HERPUD1 - CETP rs3764261-A 0.32 7 x 10-380 3.39 [3.21-3.57] mg/dL increase
8p21.3 LPL LPL - RPL30P9 rs12678919-G 0.12 1 x 10-97 2.25 [2.01-2.49] mg/dL increase
9q31.1 ABCA1 ABCA1 rs1883025-T intron 0.25 2 x 10-33 .94 [0.76-1.12] mg/dL decrease
16q22.1 LCAT PSKH1 rs16942887-A intron 0.12 8 x 10-33 1.27 [1.05-1.49] mg/dL increase
2p24.1 APOB APOB rs1042034-C missense 0.22 1 x 10-30 .9 [0.72-1.08] mg/dL increase
8p23.1 PPP1R3B LOC157273 rs9987289-A intron 0.09 6 x 10-25 1.21 [0.96-1.46] mg/dL decrease
20q13.12 PLTP PLTP - PCIF1 rs6065906-C 0.18 2 x 10-22 .93 [0.73-1.13] mg/dL decrease
01/25/12 " LDL cholesterol 95,454 European ancestry individuals NA View full set of 37 SNPs Affymetrix, Illumina & Perlegen
[~2.6 million] (imputed)
N
1p13.3 CELSR2,PSRC1,SORT1 CELSR2 rs629301-G UTR-3 0.22 1 x 10-170 5.65 [5.24-6.06] mg/dL decrease
19p13.2 LDLR LDLR rs6511720-T intron 0.11 4 x 10-117 6.99 [6.4-7.58] mg/dL decrease
2p24.1 APOB APOB rs1367117-A missense 0.3 4 x 10-114 4.05 [3.68-4.42] mg/dL increase
2p21 ABCG5,ABCG8 ABCG8 rs4299376-G intron 0.3 2 x 10-47 2.75 [2.36-3.14] mg/dL increase
19q13.32 APOE,APOC1,APOC2 APOC1 rs4420638-G nearGene-3 0.17 9 x 10-147 7.14 [6.57-7.71] mg/dL increase
5q13.3 HMGCR HMGCR rs12916-C UTR-3 0.39 5 x 10-45 2.45 [2.1-2.8] mg/dL increase
8q24.13 TRIB1 TRIB1 - LINC00861 rs2954029-A 0.46 3 x 10-29 1.84 [1.51-2.17] mg/dL decrease
1p32.3 PCSK9 PCSK9 rs2479409-G nearGene-5 0.3 2 x 10-28 2.01 [1.58-2.44] mg/dL increase
11q23.3 APOA1,APOC3,APOA4,APOA5 ZPR1 rs964184-G intron 0.13 1 x 10-26 2.85 [2.32-3.38] mg/dL increase
5q33.3 TIMD4,HAVCR1 TIMD4 rs6882076-T nearGene-5 0.35 2 x 10-22 1.67 [1.3-2.04] mg/dL decrease
01/25/12 " Triglycerides 96,598 European ancestry individuals NA View full set of 32 SNPs Affymetrix, Illumina & Perlegen
[~2.6 million] (imputed)
N
11q23.3 APOA1,APOC3,APOA4,APOA5 ZPR1 rs964184-G intron 0.13 7 x 10-240 16.95 [16.01-17.89] mg/dL increase
2p23.3 GCKR GCKR rs1260326-T missense 0.41 6 x 10-133 8.76 [7.98-9.54] mg/dL increase
8q24.13 TRIB1 TRIB1 - LINC00861 rs2954029-T 0.47 3 x 10-55 5.64 [4.88-6.4] mg/dL decrease
8p21.3 LPL LPL - RPL30P9 rs12678919-G 0.12 2 x 10-115 13.64 [12.37-14.91] mg/dL decrease
7q11.23 MLXIPL TBL2 rs17145738-G nearGene-3 0.19 9 x 10-59 7.91 [6.93-8.89] mg/dL decrease
2p24.1 APOB APOB rs1042034-C missense 0.22 1 x 10-45 5.99 [5.11-6.87] mg/dL decrease
1p31.3 ANGPTL3,DOCK7 DOCK7 rs2131925-G intron 0.32 9 x 10-43 4.94 [4.16-5.72] mg/dL decrease
19q13.32 APOE,APOC1,APOC2 APOE - APOC1 rs439401-T 0.36 1 x 10-30 5.5 [4.64-6.36] mg/dL decrease
19p13.11 CSPG3,CILP2,PBX4 SUGP1 rs10401969-C intron 0.07 2 x 10-29 7.83 [6.22-9.44] mg/dL decrease
11q12.2 FADS1,FADS2,FADS3 FADS1 rs174546-T UTR-3 0.34 5 x 10-24 3.82 [3.08-4.56] mg/dL increase




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