We conducted an electronic health record (EHR)-based phenome-wide association study
(PheWAS) to discover pleiotropic effects of variants in three lipoprotein metabolism genes
PCSK9, APOB, and LDLR. Using high-density genotype data, we tested the associations of
variants in the three genes with 1232 EHR-derived binary phecodes in 51,700 European-
ancestry (EA) individuals and 585 phecodes in 10,276 African-ancestry (AA) individuals;
457 PCSK9, 730 APOB, and 720 LDLR variants were filtered by imputation quality (r 2> 0.4) …