rs141502002, PCSK9

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.700 CausalMutation CLINVAR
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
0.010 GeneticVariation BEFREE Finally, the proband carrying the R357H mutation exhibited very high plasma cholesterol during pregnancy, whereas the proband carrying the p.R469W mutation exhibited a severe phenotype of hypercholesterolemia in combination with a LDLR mutation resulting from a frameshift at residue F382 (1209delC). 16211558 2005
LDLR mutation
CUI: C3888506
Disease: LDLR mutation
0.010 GeneticVariation BEFREE Finally, the proband carrying the R357H mutation exhibited very high plasma cholesterol during pregnancy, whereas the proband carrying the p.R469W mutation exhibited a severe phenotype of hypercholesterolemia in combination with a LDLR mutation resulting from a frameshift at residue F382 (1209delC). 16211558 2005