APOE, apolipoprotein E, 348

N. diseases: 1049; N. variants: 62
Disease: Hyperlipoproteinemia Type IIa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs769452
rs769452
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.700 GeneticVariation UNIPROT Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France. 26802169 2016
dbSNP: rs769452
rs769452
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.700 GeneticVariation UNIPROT APOE p.Leu167del mutation in familial hypercholesterolemia. 24267230 2013
dbSNP: rs769452
rs769452
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa 		0.700 GeneticVariation UNIPROT Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation. 22949395 2013