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URL: http://phewas.mc.vanderbilt.edu/
Proper Citation: PheWAS Catalog (RRID:SCR_003562)
Description: Catalog of phenome-wide association study (PheWAS) results for 3,144 single-nucleotide polymorphisms (SNPs) present in the NHGRI GWAS Catalog as of 4/17/2012 in 13,835 European-ancestry individuals from five sites of the Electronic Medical Records and Genomics (eMERGE) network. A total of 1,358 EMR-derived phenotypes were analyzed for each SNP. This PheWAS replicated 66% (51/77) of sufficiently powered prior GWAS associations, and 210/751 of all prior GWAS associations. They also identified 63 potentially pleiotropic associations with p < 4.6x10-6 (false discovery rate < 0.1); the strongest of these novel associations replicated in an independent cohort (n=7,406). The catalog contains all associations with p < 0.05 (uncorrected).
Abbreviations: PheWAS Catalog
Synonyms: Phenome-wide association studies Catalog
Resource Type: data or information resource, data set
Defining Citation: PMID:24270849
Keywords: phenome-wide association study, phenotype, single-nucleotide polymorphism
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