APOE, apolipoprotein E, 348

N. diseases: 1049; N. variants: 62
Disease: Hypercholesterolemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs429358
rs429358
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0020443
Disease:
Hypercholesterolemia 		0.020 GeneticVariation BEFREE The apo E4 (Arg112-Cys) polymorphism has been associated with dementia and hypercholesterolemia. 11257253 2001
dbSNP: rs429358
rs429358
Entrez Id: 348
Gene Symbol: APOE
APOE
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
dbSNP: rs573658040
rs573658040
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0020443
Disease:
Hypercholesterolemia 		0.010 GeneticVariation BEFREE Variable expression of hypercholesterolemia in Apolipoprotein E2* (Arg136 --> Cys) heterozygotes. 11043917 2000
dbSNP: rs11542041
rs11542041
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0020443
Disease:
Hypercholesterolemia 		0.010 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
dbSNP: rs267606661
rs267606661
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0020443
Disease:
Hypercholesterolemia 		0.010 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