rs11591147, PCSK9

N. diseases: 28
Disease: Xanthomatosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Xanthomatosis
CUI: C0043325
Disease: Xanthomatosis
0.010 GeneticVariation BEFREE The aims of this cross-sectional cohort-study were to examine whether the PCSK9 R46L loss of function variant found in a cohort of familial hypercholesterolemia (FH) patients was associated with lower low density lipoprotein cholesterol, lower frequency of xanthomata, and cardiovascular risk. 25278291 2014