rs429358, APOE

N. diseases: 66
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 The apo E4 (Arg112-Cys) polymorphism has been associated with dementia and hypercholesterolemia. 11257253 2001
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
0.020 GeneticVariation BEFREE Family studies failed to demonstrate cosegregation between the new mutations and severe hyperlipoproteinemia, although a number of carriers for the APOE*3(Cys112-->Arg; Arg251-->Gly) allele and the APOE*1(Arg158-->Cys; Leu252-->Glu) allele expressed hypertriglyceridemia and/or hypercholesterolemia. 8488843 1993