APOE Chromosome 19

Apolipoprotein E
29 variants 4 Drug Response 25 Health Risk

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What This Gene Does
The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jun 2016]
Gene Info
Gene Group
Apolipoproteins
Locus Type
gene with protein product
Location
19q13.32
Ensembl
ENSG00000130203
Associated Conditions (33)
Coronary artery disease
severe
susceptibility to
Warfarin response
Familial type 3 hyperlipoproteinemia
atorvastatin response - Efficacy
Hypercholesterolemia
Cardiovascular phenotype
Alzheimer disease 2
Lipoprotein glomerulopathy
APOE5 VARIANT
6 conditions
APOE-related disorder
Alzheimer disease 4
Familial hypercholesterolemia
Alzheimer disease
Primary degenerative dementia of the Alzheimer type
presenile onset
HYPERLIPOPROTEINEMIA
TYPE III
+13 more conditions
Key Variants
RS405509
drug response
Coronary artery disease, severe, susceptibility to
Drug Response
RS439401
drug response
Warfarin response, Warfarin response
Drug Response
RS7412
drug response
Familial type 3 hyperlipoproteinemia, atorvastatin response - Efficacy, Hypercholesterolemia
Drug Response
RS769450
drug response
Warfarin response, Warfarin response
Drug Response
RS140808909
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Alzheimer disease 2, Cardiovascular phenotype
Health Risk
RS144354013
Conflicting classifications of pathogenicity
Lipoprotein glomerulopathy, Familial type 3 hyperlipoproteinemia, Cardiovascular phenotype
Health Risk
RS190853081
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Alzheimer disease 2, Cardiovascular phenotype
Health Risk
RS201672011
Conflicting classifications of pathogenicity
APOE5 VARIANT, 6 conditions, APOE5 VARIANT
Health Risk
RS563571689
Conflicting classifications of pathogenicity
Alzheimer disease 2, APOE-related disorder, Familial type 3 hyperlipoproteinemia
Health Risk
RS769452
Conflicting classifications of pathogenicity
Alzheimer disease 4, Cardiovascular phenotype, Alzheimer disease 4
Health Risk
RS769455
Conflicting classifications of pathogenicity
Familial type 3 hyperlipoproteinemia, Cardiovascular phenotype, APOE-related disorder
Health Risk
RS429358
Conflicting classifications of pathogenicity; other; risk factor
Alzheimer disease 2, Alzheimer disease, Primary degenerative dementia of the Alzheimer type
Health Risk
Related Biomarkers (3)
Total Cholesterol risk if abnormal strong
Ldl Cholesterol risk if abnormal strong
Total Cholesterol supports interpretation moderate
Related Supplements (2)
Omega-3 (EPA/DHA) may support moderate
RS429358
APOE ε4 — omega-3 may support cardiovascular health
Phosphatidylcholine may support exploratory
RS429358
APOE ε4 — may support neurological health
All Variants (29)
RSID Category Clinical Significance Conditions
RS405509 Drug Response drug response Coronary artery disease, severe, susceptibility to
RS439401 Drug Response drug response Warfarin response, Warfarin response
RS7412 Drug Response drug response Familial type 3 hyperlipoproteinemia, atorvastatin response - Efficacy, Hypercholesterolemia
RS769450 Drug Response drug response Warfarin response, Warfarin response
RS140808909 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alzheimer disease 2, Cardiovascular phenotype
RS144354013 Health Risk Conflicting classifications of pathogenicity Lipoprotein glomerulopathy, Familial type 3 hyperlipoproteinemia, Cardiovascular phenotype
RS190853081 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alzheimer disease 2, Cardiovascular phenotype
RS201672011 Health Risk Conflicting classifications of pathogenicity APOE5 VARIANT, 6 conditions, APOE5 VARIANT
RS563571689 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 2, APOE-related disorder, Familial type 3 hyperlipoproteinemia
RS769452 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 4, Cardiovascular phenotype, Alzheimer disease 4
RS769455 Health Risk Conflicting classifications of pathogenicity Familial type 3 hyperlipoproteinemia, Cardiovascular phenotype, APOE-related disorder
RS429358 Health Risk Conflicting classifications of pathogenicity; other; risk factor Alzheimer disease 2, Alzheimer disease, Primary degenerative dementia of the Alzheimer type
RS121918393 Health Risk Likely pathogenic Familial type 3 hyperlipoproteinemia, Familial hypercholesterolemia, Familial type 3 hyperlipoproteinemia
RS121918396 Health Risk Likely pathogenic Familial type 3 hyperlipoproteinemia, HYPERLIPOPROTEINEMIA, TYPE III
RS1332591068 Health Risk Likely pathogenic Lipoprotein glomerulopathy, Lipoprotein glomerulopathy
RS200703101 Health Risk Likely pathogenic Abnormal circulating lipid concentration, Abnormal circulating lipid concentration
RS2122137937 Health Risk Likely pathogenic Familial type 3 hyperlipoproteinemia, Familial type 3 hyperlipoproteinemia
RS387906567 Health Risk Likely pathogenic Familial type 3 hyperlipoproteinemia, Familial type 3 hyperlipoproteinemia
RS121918392 Health Risk Pathogenic HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5
RS121918394 Health Risk Pathogenic Familial type 3 hyperlipoproteinemia, Hyperlipoproteinemia, type III
RS121918395 Health Risk Pathogenic APOE2-DUNEDIN, HYPERLIPOPROTEINEMIA, TYPE IV/V
RS121918397 Health Risk Pathogenic Familial type 3 hyperlipoproteinemia, Lipoprotein glomerulopathy, Familial hypercholesterolemia
RS121918398 Health Risk Pathogenic APOE4 VARIANT, APOE4 VARIANT
RS2122132718 Health Risk Pathogenic Familial type 3 hyperlipoproteinemia, Familial type 3 hyperlipoproteinemia
RS28931578 Health Risk Pathogenic APOE2 VARIANT, APOE2 VARIANT
RS397514253 Health Risk Pathogenic Familial type 3 hyperlipoproteinemia, Familial type 3 hyperlipoproteinemia
RS397514254 Health Risk Pathogenic Familial type 3 hyperlipoproteinemia, Familial type 3 hyperlipoproteinemia
RS515726148 Health Risk Pathogenic Sea-blue histiocyte syndrome, Cardiovascular phenotype, Familial hypercholesterolemia
RS121918399 Health Risk Pathogenic/Likely pathogenic Lipoprotein glomerulopathy, 7 conditions, Cardiovascular phenotype
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