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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

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
11/03/09 Ganesh SK
October 11, 2009
Nat Genet
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
Hematocrit 24,167 European ancestry individuals 9,456 European ancestry individuals 6q23.3 HBS1L, MYB MIR3662 - MYB rs9483788-C NR 3 x 10-15 .22 [0.16-0.28] % increase Affymetrix & Illumina
[~2.5 million](imputed)
N
2p21 PRKCE PRKCE rs10168349-C intron NR 4 x 10-15 .19 [0.14-0.23] % increase
7q36.1 PRKAG2 PRKAG2 rs10224002-G intron NR 6 x 10-15 .2 [0.15-0.25] % increase
10q22.1 HK1 HK1 rs16926246-T intron NR 1 x 10-13 .33 [0.24-0.42] % increase
22q12.3 TMPRSS6 TMPRSS6 rs2413450-T intron NR 2 x 10-13 .17 [0.13-0.22] % decrease
12q24.12 SH2B3, ATXN2 ATXN2 - BRAP rs11065987-G NR 1 x 10-12 .17 [0.12-0.22] % decrease
7q22.1 TFR2 TFR2 rs7385804-C intron NR 4 x 10-10 .15 [0.10-0.20] % decrease
6p22.2 HFE HFE rs1800562-A missense NR 2 x 10-9 .31 [0.21-0.41] % increase
11/03/09 " Hemoglobin 24,167 European ancestry individuals 9,456 European ancestry individuals 22q12.3 TMPRSS6 TMPRSS6 rs855791-A missense NR 3 x 10-25 .09 [0.07-0.11] g/dl decrease Affymetrix & Illumina
[~2.5 million](imputed)
N
6p22.2 HFE HFE rs1800562-A missense NR 6 x 10-19 .16 [0.13-0.20] g/dl increase
7q36.1 PRKAG2 PRKAG2 rs10224002-G intron NR 3 x 10-15 .07 [0.05-0.09] g/dl increase
2p21 PRKCE PRKCE rs10495928-G intron NR 7 x 10-13 .06 [0.05-0.08] g/dl increase
12q24.12 TRAFD1 ATXN2 - BRAP rs11065987-A NR 1 x 10-11 .06 [0.04-0.08] g/dl increase
10q22.1 HK1 HK1 rs16926246-T intron NR 2 x 10-11 .11 [0.08-0.14] g/dl increase
20q13.2 TSHZ2 TRNAI30P - RPL36P1 rs6013509-A NR 1 x 10-10 .06 [0.05-0.08] g/dl decrease
11/03/09 " Mean corpuscular hemoglobin 24,167 European ancestry individuals 9,456 European ancestry individuals 6q23.3 HBS1L, MYB MIR3662 - MYB rs7776054-G NR 7 x 10-69 .01 [0.009-0.0111] pg decrease Affymetrix & Illumina
[~2.5 million](imputed)
N
6p22.2 SLC17A3 SLC17A1 - SLC17A3 rs1408272-G NR 4 x 10-39 .02 [0.01-0.02] pg decrease
22q12.3 TMPRSS6 TMPRSS6 rs2413450-T intron NR 9 x 10-34 .01 [0.0005-0.007] pg decrease
6p21.1 CCND3, BYSL CCND3 rs9349205-A intron NR 8 x 10-20 .01 [0.004-0.006] pg decrease
6q24.1 CITED2 CITED2 - ATP5F1P6 rs628751-C NR 1 x 10-17 0 [0.003-0.005] pg decrease
9p24.1 RCL1 RCL1 rs10758658-A intron NR 2 x 10-14 0 [0.004-0.006] pg decrease
3q29 TFRC TFRC rs11915082-A nearGene-5 NR 8 x 10-13 0 [0.003-0.005] pg increase
19p13.2 GCDH GCDH rs11085824-G nearGene-5 NR 1 x 10-11 0 [0.003-0.005] pg decrease
16p13.3 ITFG3 ITFG3 rs1122794-A intron NR 3 x 10-10 0 [0.003-0.006] pg increase
11/03/09 " Mean corpuscular volume 24,167 European ancestry individuals 9,456 European ancestry individuals View full set of 17 SNPs Affymetrix & Illumina
[~2.5 million](imputed)
N
6q23.3 HBS1L, MYB MIR3662 - MYB rs4895441-G NR 7 x 10-86 .01 [0.007-0.009] fl decrease
6p22.2 HFE HFE rs1800562-A missense NR 1 x 10-46 .01 [0.010-0.014] fl increase
22q12.3 TMPRSS6 TMPRSS6 rs2413450-T intron NR 3 x 10-41 .01 [0.004-0.006] fl decrease
6p21.1 CCND3, BYSL CCND3 rs9349205-A intron NR 1 x 10-31 .01 [0.004-0.006] fl decrease
6q24.1 CITED2 CITED2 - ATP5F1P6 rs643381-A NR 5 x 10-25 0 [0.003-0.005] fl decrease
9p24.1 RCL1 RCL1 rs10758658-A intron NR 3 x 10-20 0 [0.003-0.005] fl decrease
22q13.33 ECGF1 ODF3B rs131794-A nearGene-5 NR 1 x 10-15 0 [0.003-0.005] fl decrease
4q12 KIT PDGFRA - KIT rs172629-G NR 1 x 10-15 0 [0.003-0.006] fl decrease
2p16.1 BCL11A RNA5SP94 - MIR4432 rs2540917-C NR 1 x 10-14 0 [0.002-0.004] fl decrease
3q29 TFRC TFRC rs9859260-C intron NR 8 x 10-14 0 [0.002-0.004] fl increase
11/03/09 " Other erythrocyte phenotypes 24,167 European ancestry individuals 9,456 European ancestry individuals 6q23.3 HBS1L, MYB MIR3662 - MYB rs9483788-G NR 1 x 10-47 (RBC) 0 [0.012-0.016] 1 M cells/mm^3 increase Affymetrix & Illumina
[~2.5 million](imputed)
N
6q23.3 HBS1L, MYB MIR3662 - MYB rs9373124-C NR 7 x 10-14 (MCHC) 0 [0.002-0.003] g/dl decrease
1q23.1 SPTA1 SPTA1 rs857721-A intron NR 1 x 10-10 (MCHC) 0 [0.001-0.002] g/dl decrease
7q22.1 EPO ZAN rs2075671-A intron NR 1 x 10-9 (RBC) 0 [0.005-0.009] 1 M cell/mm^3 increase




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