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A Catalog of Published Genome-Wide Association Studies

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.

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Published Genome-Wide Associations
Credit: Darryl Leja and Teri Manolio

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The genome-wide association study (GWAS) publications listed here include only those attempting to assay at least 100,000 single nucleotide polymorphisms (SNPs) in the initial stage. Publications are organized from most to least recent date of publication, indexing from online publication if available. Studies focusing only on candidate genes are excluded from this catalog. 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).

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.

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 GWAS Catalog:
Hindorff LA, Junkins HA, Hall PN, Mehta JP, 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 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.]

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• Full Description of Methods
  
  
• Tab Delimited Format: 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

For questions or comments about this page, send an e-mail to: gwas_table@mail.nih.gov

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Date Added to Catalog (since 11/25/08) First Author/Date/ Journal/Study Disease/Trait Initial Sample Size Replication Sample Size Region Reported Gene(s) Strongest SNP-Risk Allele Risk Allele Frequency in Controls P-value OR or beta-coefficient and [95% CI] Platform [SNPs passing QC] CNV 07/24/09 Estrada July 01, 2009 Hum Mol Genet A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. Height 10,074 European individuals 6,912 European individuals 2q37.1 22q13.1 5p13.3 11q14.1 22q13.1 DIS3L2, ALPP, NPPC TNRC6B, ADSL C5orf23, NPR3 TMEM126B, TMEM126A SGSM3, MKL1 rs6717918-T rs139909-T rs10472828-C rs10898392-T rs5757949-T 0.78 0.68 0.56 NR NR 3 x 10-9 2 x 10-7 3 x 10-7 3 x 10-6 4 x 10-6 .44 [0.20-0.68] cm increase .25 [0.03-0.47] cm increase .22 [0.04-0.40] cm increase NR NR Affymetrix, Illumina & Perlegen [2,228,850] (imputed) N

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Last Updated: September 02, 2010