Catalog of Published Genome-Wide Association Studies
Division of Genomic Medicine
A Catalog of Published Genome-Wide Association Studies
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. Presentations will be archived and made available at a later date.
Additional information has been added to the HTML catalog columns below. For a description of column headings for the HTML catalog, go to: Catalog Heading Descriptions
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
Click here to read our recent Proceedings of the Academy of Sciences (PNAS) article on catalog methods and analysis.
SNP-trait associations listed here are limited to those with p-values < 1.0 x 10-5 (see full methods for additional details). Multipliers of powers of 10 in p-values are rounded to the nearest single digit; odds ratios and allele frequencies are rounded to two decimals. Standard errors are converted to 95 percent confidence intervals where applicable. Allele frequencies, p-values, and odds ratios derived from the largest sample size, typically a combined analysis (initial plus replication studies), are recorded below if reported; otherwise statistics from the initial study sample are recorded. For quantitative traits, information on % variance explained, SD increment, or unit difference is reported where available. Odds ratios < 1 in the original paper are converted to OR > 1 for the alternate allele. Where results from multiple genetic models are available, we prioritized effect sizes (OR's or beta-coefficients) as follows: 1) genotypic model, per-allele estimate; 2) genotypic model, heterozygote estimate, 3) allelic model, allelic estimate.
Gene regions corresponding to SNPs were identified from the UCSC Genome Browser. 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.
We have limited the number of SNP-trait associations extracted from each paper to 50, due to workload constraints. Of associations meeting our eligibility criteria, those with lower p-values are given higher priority, as are those which are reported to be novel by the authors. If multiple phenotypes are present within one paper, associations may be chosen to balance the phenotypes. This impacts the following papers: Estrada, Nature Genet 2012, Gieger, Nature 2011; Sawcer, Nature 2011; Franke, Nat Genet 2010; Wang, Schizophr Res, 2010; Lango Allen, Nature 2010; Kamatani, Nat Genet 2010; Cirulli, Eur J Hum Genet 2010; Need, Hum Mol Genet 2009.
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:
Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, Collins FS, and Manolio TA. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci USA. [May 27, 2009.]
- Additional information has been added to the HTML catalog columns below. For a description of column headings for the HTML catalog, go to: Catalog Heading Descriptions
This table is best viewed with a screen resolution of 1280 x 1024 or higher.
- Full Description of Methods
- To download the full catalog: A tab delimited version of the GWAS catalog is generated daily and available for download, available here: Tab Delimited File. To save this file, use a .txt extension. This file can be opened in an Excel program. For a description of the file spreadsheet column headings, go to: Tab Delimited File Heading Descriptions.
- GWAS Catalog 11-26-08: For an archived Excel spreadsheet of the catalog data restricted to the most statistically significant SNP associations that were not known at the time each study was published, go to: GWAS Catalog 11-26-08
- List of Abbreviations Used on This Page
- GWAS Catalog Related Resources