To identify associations between the PRS for POU and clinical phenotypes, we performed a PheWAS in BioVU. We fitted a logistic regression model to each of 1338 case/control disease phenotypes (“phecodes”) to estimate the odds of each diagnosis given the POU PRS, while adjusting for sex, median age of the longitudinal EHR, and the first ten PCs. Analyses were conducted using the PheWAS v0.12R package [37]. We required the presence of at least two International Disease Classification codes mapped to a PheWAS disease category (Phecode Map 1.2; https://phewascatalog.org/phecodes) and a minimum of 100 cases for inclusion of a phecode. The disease phenotypes included 145 circulatory system, 120 genitourinary, 119 endocrine/metabolic, 125 digestive, 117 neoplasms, 91 musculoskeletal, 85 sense organs, 76 injuries & poisonings, 65 dermatological, 76 respiratory, 69 neurological, 64 mental disorders, 42 infectious diseases, 42 hematopoietic, 34 congenital anomalies, 37 symptoms, and 31 pregnancy complications.
