As a positive control analysis, we conducted a PheWAS of 966 available PheCodes with at least 75 cases (Table S2) against rare variants in the LDL-receptor (LDLR) gene, in which more than 3,000 mutations, predominantly missense variants, have been described to cause familial hypercholesterolemia (FH) (ClinVar) [24–26]. Here, LDLR is linked to familial hypercholesterolemia.