rs11591147, PCSK9

N. diseases: 28
Disease: Hypocholesterolemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypocholesterolemia
CUI: C0151718
Disease: Hypocholesterolemia
0.010 GeneticVariation BEFREE Using this cell-based assay of PCSK9 activity, we found that the relative potencies of several PCSK9 missense mutants (S127R and D374Y, associated with hypercholesterolemia, and R46L, associated with hypocholesterolemia) correlate with LDL cholesterol levels in humans carrying such mutations. 17493938 2007