NIH

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

To view the PDF(s) on this page you will need Adobe Reader. Download Adobe Reader

 

 

 





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
05/12/14 Willer CJ
October 06, 2013
Nat Genet
Discovery and refinement of loci associated with lipid levels.
Cholesterol, total 94,595 European ancestry individuals 93,982 European ancestry individuals View full set of 73 SNPs NR (Imputed) N
8q24.13 TRIB1 TRIB1 - LINC00861 rs2954029-T 0.47 2 x 10-65 .062 [NR] unit decrease
1p13.3 SORT1 CELSR2 rs629301-G UTR-3 0.24 2 x 10-170 .134 [NR] unit decrease
5q13.3 HMGCR HMGCR rs12916-C UTR-3 0.4 5 x 10-74 .68 [NR] unit increase
19p13.11 CILP2 SUGP1 rs10401969-C intron 0.09 4 x 10-77 .137 [NR] unit decrease
19p13.2 LDLR LDLR rs6511720-T intron 0.12 5 x 10-202 .185 [NR] unit decrease
19q13.32 APOE APOC1 rs4420638-G nearGene-3 0.19 1 x 10-149 .197 [NR] unit increase
2p24.1 APOB APOB rs1367117-A missense 0.32 3 x 10-139 .1 [NR] unit increase
11q23.3 APOA1 ZPR1 rs964184-C intron 0.84 3 x 10-55 .121 [NR] unit decrease
1p31.3 ANGPTL3 DOCK7 rs2131925-G intron 0.34 4 x 10-80 .075 [NR] unit decrease
2p21 ABCG5, ABCG8 ABCG8 rs4299376-G intron 0.31 3 x 10-73 .079 [NR] unit increase
05/12/14 " HDL cholesterol 94,595 European ancestry individuals 93,982 European ancestry individuals View full set of 72 SNPs NR (Imputed) N
9q31.1 ABCA1 ABCA1 rs1883025-T intron 0.25 2 x 10-65 .07 [NR] unit decrease
11q23.3 APOA1 ZPR1 rs964184-C intron 0.84 6 x 10-48 .106 [NR] unit increase
16q13 CETP HERPUD1 - CETP rs3764261-A 0.32 1 x 10-769 .241 [NR] unit increase
16q22.1 LCAT PSKH1 rs16942887-A intron 0.14 8 x 10-54 .083 [NR] unit increase
15q21.3 LIPC LOC102724766 rs1532085-A intron 0.4 1 x 10-188 .107 [NR] unit increase
8p21.3 LPL LPL - RPL30P9 rs12678919-G 0.13 1 x 10-149 .155 [NR] unit increase
18q21.1 LIPG LIPG - SMUG1P1 rs7241918-G 0.19 1 x 10-44 .09 [NR] unit decrease
8p23.1 PPP1R3B LOC157273 rs9987289-A intron 0.1 2 x 10-41 .082 [NR] unit decrease
1q42.13 GALNT2 GALNT2 rs4846914-G intron 0.41 4 x 10-41 .048 [NR] unit decrease
20q13.12 PLTP PLTP - PCIF1 rs6065906-C 0.19 5 x 10-40 .059 [NR] unit decrease
05/12/14 " LDL cholesterol 94,595 European ancestry individuals up to 4,420 African ancestry individuals 19p13.2 LDLR LDLR rs6511720-? intron 0.13 3 x 10-115 NR NR (Imputed) N
05/12/14 " LDL cholesterol 94,595 European ancestry individuals 93,982 European ancestry individuals View full set of 58 SNPs NR (Imputed) N
2p21 ABCG5, ABCG58 ABCG8 rs4299376-G intron 0.31 4 x 10-72 .081 [NR] unit increase
5q13.3 HMGCR HMGCR rs12916-C UTR-3 0.40 8 x 10-78 .073 [NR] unit increase
19p13.11 CILP2 SUGP1 rs10401969-C intron 0.09 3 x 10-54 .118 [NR] unit decrease
8q24.13 TRIB1 TRIB1 - LINC00861 rs2954029-T 0.47 2 x 10-50 .056 [NR] unit decrease
1p32.3 PCSK9 PCSK9 rs2479409-G nearGene-5 0.32 3 x 10-50 .064 [NR] unit increase
19p13.2 LDLR LDLR rs6511720-T intron 0.12 4 x 10-262 .221 [NR] unit decrease
1p13.3 SORT1 CELSR2 rs629301-G UTR-3 0.24 5 x 10-241 .167 [NR] unit decrease
2p24.1 APOB APOB rs1367117-A missense 0.32 1 x 10-182 .119 [NR] unit increase
19q13.32 APOE APOC1 rs4420638-G nearGene-3 0.19 2 x 10-178 .225 [NR] unit increase
9q34.2 ABO ABO - SURF6 rs9411489-T* 0.21 2 x 10-41 .077 [NR] unit increase
05/13/14 " Triglycerides 94,595 European ancestry individuals 8,743 East Asian ancestry individuals 11q23.3 APOA5, A4, C3, A1 BUD13 - ZPR1 rs2160669-? 0.73 3 x 10-128 NR NR (Imputed) N
05/12/14 " Triglycerides 94,595 European ancestry individuals 93,982 European ancestry individuals View full set of 40 SNPs NR (Imputed) N
1p31.3 ANGPTL3 DOCK7 rs2131925-G intron 0.34 3 x 10-74 .066 [NR] mg/dL decrease
2p23.3 GCKR GCKR rs1260326-T missense 0.39 2 x 10-239 .115 [NR] mg/dL increase
8p21.3 LPL LPL - RPL30P9 rs12678919-G 0.13 2 x 10-199 .17 [NR] mg/dL decrease
7q11.23 MLXIPL TBL2 rs17145738-T nearGene-3 0.13 9 x 10-99 .115 [NR] mg/dL decrease
19p13.11 CILP2 SUGP1 rs10401969-C intron 0.09 1 x 10-69 .121 [NR] mg/dL decrease
11q23.3 APOA1 ZPR1 rs964184-C intron 0.84 7 x 10-224 .234 [NR] mg/dL decrease
8q24.13 TRIB1 TRIB1 - LINC00861 rs2954029-T 0.47 1 x 10-107 .076 [NR] mg/dL decrease
11q12.2 FADS1, FADS2, FADS3 FADS1 rs174546-T UTR-3 0.36 7 x 10-38 .045 [NR] mg/dL increase
20q13.12 PLTP PLTP - PCIF1 rs6065906-C 0.19 2 x 10-34 .053 [NR] mg/dL increase
1q42.13 GALNT2 GALNT2 rs4846914-G intron 0.41 7 x 10-31 .04 [NR] mg/dL increase




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