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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

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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 Willer CJ
January 13, 2008
Nat Genet
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
HDL cholesterol 8,656 European ancestry individuals 11,437 European ancestry individuals 16q13 CETP HERPUD1 - CETP rs3764261-A 0.31 2 x 10-57 3.47 [NR] mg/dl higher Illumina and Affymetrix
[~2,261,000] (imputed)
N
16q13 CETP CETP rs1864163-G intron 0.80 7 x 10-39 4.12 [NR] mg/dl higher
16q13 CETP HERPUD1 - CETP rs9989419-G 0.65 3 x 10-31 1.72 [NR] mg/dl higher
15q21.3 LIPC LOC102724766 rs4775041-C intron 0.33 3 x 10-20 1.38 [NR] mg/dl higher
8p21.3 LPL LPL - RPL30P9 rs10503669-A 0.10 4 x 10-19 2.09 [NR] mg/dl higher
1q42.13 GALNT2 GALNT2 rs2144300-T intron 0.60 3 x 10-14 1.11 [NR] mg/dl higher
18q21.1 LIPG SMUG1P1 - ACAA2 rs2156552-T 0.84 6 x 10-12 1.2 [NR] mg/dl higher
9q31.1 ABCA1 ABCA1 rs4149268-C intron 0.64 1 x 10-10 .82 [NR] mg/dl higher
12q24.11 MVK,MMAB KCTD10 rs2338104-G intron 0.45 3 x 10-8 .48 [NR] mg/dl higher
16q22.1 LCAT DPEP2 rs255052-A intron 0.17 1 x 10-7 .74 [NR] mg/dl higher
11/25/08 " LDL cholesterol 8,589 European ancestry individuals 12,981 European ancestry individuals 19q13.32 APOE,APOC1,APOC4 APOC1 rs4420638-G nearGene-3 0.18 3 x 10-43 6.61 [NR] mg/dl higher Illumina and Affymetrix
[~2,261,000] (imputed)
N
1p13.3 CELSR2,PSRC1,SORT1 PSRC1 rs599839-A nearGene-3 0.77 6 x 10-33 5.48 [NR] mg/dl higher
19p13.2 LDLR LDLR rs6511720-G intron 0.90 4 x 10-26 9.17 [NR] mg/dl higher
2p24.1 APOB APOB - TDRD15 rs562338-G 0.82 6 x 10-22 4.89 [NR] mg/dl higher
1p32.3 PCSK9 BSND - PCSK9 rs11206510-T 0.81 4 x 10-11 3.04 [NR] mg/dl higher
19p13.11 NCAN,CILP2 CILP2 - PBX4 rs16996148-G 0.89 3 x 10-9 3.32 [NR] mg/dl higher
6p21.32 B3GALT4 COL11A2 rs2254287-G intron 0.38 5 x 10-8 1.91 [NR] mg/dl higher
11/25/08 " Triglycerides 8,684 European ancestry individuals 9,741 European ancestry individuals 2p23.3 GCKR GCKR rs780094-T intron 0.39 6 x 10-32 8.59 [NR] mg/dl higher Illumina and Affymetrix
[~2,261,000]] (imputed)
N
11q23.3 APOA5, APOA4, APOC3, APOA1 ZPR1 rs12286037-T intron 0.06 1 x 10-26 25.82 [NR] mg/dl higher
8p21.3 LPL LPL - RPL30P9 rs10503669-C 0.90 4 x 10-22 11.57 [NR] mg/dl higher
8q24.13 TRIB1 TRIB1 - LINC00861 rs17321515-A 0.56 7 x 10-13 6.42 [NR] mg/dl higher
7q11.23 MLXIPL TBL2 rs17145738-C nearGene-3 0.84 2 x 10-12 8.21 [NR] mg/dl higher
1p31.3 ANGPTL3 DOCK7 rs1748195-C intron 0.70 2 x 10-10 7.12 [NR] mg/dl higher
19p13.11 NCAN,CILP2 CILP2 - PBX4 rs16996148-G 0.92 3 x 10-9 6.1 [NR] mg/dl higher
15q21.3 LIPC LOC102724766 rs4775041-C intron 0.33 2 x 10-8 3.62 [NR] mg/dl higher
1q42.13 GALNT2 GALNT2 rs2144300-C intron 0.40 8 x 10-7 4.25 [NR] mg/dl higher




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