rs11591147, PCSK9

N. diseases: 28
Disease: Hypercholesterolemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
0.020 GeneticVariation BEFREE PheWAS revealed a significantly reduced risk of hypercholesterolemia (odds ratio [OR] 0.68, p = 7.6 × 10<sup>-4</sup>) in association with a known loss-of-function variant in PCSK9, R46L. 29185237 2018
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
0.020 GeneticVariation BEFREE No association tests were performed for R46L variant because of its very low frequency, whereas the I474V polymorphism and PCSK9 haplotypes were not related to hypercholesterolemia or variability on plasma lipids in both NL and HC groups (P > .05). 24793346 2015