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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
12/09/08 Sonuga-Barke EJ
October 07, 2008
Am J Med Genet B Neuropsychiatr Genet
Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.
Attention deficit hyperactivity disorder symptoms (interaction) 909 European ancestry trios NA 11q21 PIWIL4 PIWIL4 rs2212361-C intron 0.26 9 x 10-7 (int, MW) .97 [NR] unit decrease Perlegen
[429,981]
N
13q12.3 Intergenic POM121L13P - MTUS2 rs1161463-C 0.79 2 x 10-6 (int, MW) 1.72 [NR] unit decrease
6p21.2 KIF6 KIF6 rs4714261-T intron 0.17 2 x 10-6 (int, MW) .95 [NR] unit increase
14q24.3 Intergenic ESRRB rs2360997-C intron 0.86 8 x 10-6 (int, MW) 1.3 [NR] unit decrease
21q21.1 Intergenic PPIAP22 - SLC6A6P1 rs2825388-A 0.40 8 x 10-6 (int, MC) 1.06 [NR] unit increase
3q27.2 Intergenic LOC344887 rs10049246-G intron 0.59 8 x 10-6 (int, MW) .6 [NR] unit increase
8p23.2 Intergenic RPL23AP54 - MCPH1 rs4875598-G 0.34 9 x 10-6 (int, MW) .94 [NR] unit decrease
12/09/08 " Conduct disorder (interaction) 909 European ancestry trios NA View full set of 15 SNPs Perlegen
[429,901)
N
5q21.1 Intergenic GTF3AP4 - OR7H2P rs13188771-A 0.17 2 x 10-6 (int, MW) 4.24 [NR] unit decrease
16p13.3 A2BP1 RBFOX1 rs6500744-C intron 0.53 3 x 10-6 (int, MW) .91 [NR] unit increase
4q23 ADH1C ADH1B - ADH1C rs1789891-A 0.14 3 x 10-6 (int, MW) 1.47 [NR] unit increase
2p21 Intergenic HNRNPA1P57 - LDHAP3 rs719593-T 0.86 5 x 10-6 (int, MC) 2.05 [NR] unit decrease
10q22.3 Intergenic LINC00856 rs2395528-T 0.23 6 x 10-6 (int, MW) 1.46 [NR] unit decrease
3p25.3 SLC6A1 SLC6A1 rs9990174-T intron 0.33 6 x 10-6 (int, MW) 2.52 [NR] unit decrease
8p23.1 MFHAS1 MFHAS1 rs332034-A intron 0.85 6 x 10-6 (int, MW) 1.05 [NR] unit increase
15q26.2 Intergenic LINC00924 - NR2F2-AS1 rs4321143-G 0.28 7 x 10-6 (int, MC) 1.13 [NR] unit increase
18q12.3 Intergenic RIT2 - SYT4 rs17664267-T 0.19 7 x 10-6 (int, MW) 1.39 [NR] unit increase
1q22 RIT1 RIT1 rs2282301-A UTR-3 0.23 7 x 10-6 (int, MW) 2.88 [NR] unit increase




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