APOE, apolipoprotein E, 348

N. diseases: 1049; N. variants: 62
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: C0002395
Disease:
Alzheimer's Disease
C 0.890 GeneticVariation CLINVAR
dbSNP: rs121918394
rs121918394
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0020479
Disease:
Hyperlipoproteinemia Type III
G 0.860 CausalMutation CLINVAR
dbSNP: rs121918393
rs121918393
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0020479
Disease:
Hyperlipoproteinemia Type III
A 0.830 CausalMutation CLINVAR
dbSNP: rs121918397
rs121918397
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C2673196
Disease:
LIPOPROTEIN GLOMERULOPATHY
C 0.830 CausalMutation CLINVAR
dbSNP: rs121918399
rs121918399
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C2673196
Disease:
LIPOPROTEIN GLOMERULOPATHY
T 0.820 CausalMutation CLINVAR
dbSNP: rs429358
rs429358
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C1863051
Disease:
ALZHEIMER DISEASE 2
C 0.800 CausalMutation CLINVAR
dbSNP: rs429358
rs429358
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C1863051
Disease:
ALZHEIMER DISEASE 2
0.800 GeneticVariation UNIPROT
dbSNP: rs429358
rs429358
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0020479
Disease:
Hyperlipoproteinemia Type III
0.730 GeneticVariation UNIPROT
dbSNP: rs121918392
rs121918392
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C4479658
Disease:
HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5
A 0.700 CausalMutation CLINVAR
dbSNP: rs121918395
rs121918395
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C4015869
Disease:
APOE2-DUNEDIN PHENOTYPE
T 0.700 CausalMutation CLINVAR
dbSNP: rs121918396
rs121918396
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0020479
Disease:
Hyperlipoproteinemia Type III
A 0.700 CausalMutation CLINVAR
dbSNP: rs121918398
rs121918398
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C4015878
Disease:
APOE4 VARIANT PHENOTYPE
A 0.700 CausalMutation CLINVAR
dbSNP: rs200703101
rs200703101
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C4025650
Disease:
Abnormality of lipid metabolism
T 0.700 GeneticVariation CLINVAR
dbSNP: rs201672011
rs201672011
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C4479660
Disease:
APOE5 VARIANT
A 0.700 CausalMutation CLINVAR
dbSNP: rs267606664
rs267606664
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa
0.700 GeneticVariation UNIPROT
dbSNP: rs28931576
rs28931576
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C4015877
Disease:
APOE3(-)-FREIBURG PHENOTYPE
G 0.700 CausalMutation CLINVAR
dbSNP: rs28931578
rs28931578
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C4015880
Disease:
APOE2 VARIANT PHENOTYPE
A 0.700 CausalMutation CLINVAR
dbSNP: rs28931579
rs28931579
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C4015881
Disease:
APOE4(+) PHENOTYPE
C 0.700 CausalMutation CLINVAR
dbSNP: rs397514253
rs397514253
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0020479
Disease:
Hyperlipoproteinemia Type III
G 0.700 CausalMutation CLINVAR
dbSNP: rs405509
rs405509
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C1862591
Disease:
CORONARY ARTERY DISEASE, SEVERE, SUSCEPTIBILITY TO
T 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs515726148
rs515726148
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0036489
Disease:
Sea-Blue Histiocyte Syndrome
G 0.700 CausalMutation CLINVAR
dbSNP: rs7412
rs7412
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0020479
Disease:
Hyperlipoproteinemia Type III
0.700 GeneticVariation UNIPROT
dbSNP: rs429358
rs429358
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0020538
Disease:
Hypertensive disease
0.710 GeneticVariation BEFREE <b>Aim:</b> To explore the association of APOE polymorphism (rs7412:526C>T and rs429358:388T>C) with glucose, lipid and serum uric acid (UA) metabolism in patients with hypertension or coronary heart disease (CHD). 31559922 2019
dbSNP: rs429358
rs429358
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0010068
Disease:
Coronary heart disease
0.020 GeneticVariation BEFREE <b>Aim:</b> To explore the association of APOE polymorphism (rs7412:526C>T and rs429358:388T>C) with glucose, lipid and serum uric acid (UA) metabolism in patients with hypertension or coronary heart disease (CHD). 31559922 2019
dbSNP: rs440446
rs440446
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0948008
Disease:
Ischemic stroke
0.010 GeneticVariation BEFREE <b>Results</b>: Three out of 10 eligible SNPs were shown to be associated with risk of ischemic stroke. rs1800947 in <i>CRP</i> gene (additive model: OR = 2.08, 95% CI: 1.00-4.23) and rs1169288 in <i>HNF1A</i> gene (additive model: OR = 1.45, 95% CI: 1.03-2.06) were associated with an increased risk of ischemic stroke. rs440446 in <i>APOE</i> gene (additive model: OR = 0.63, 95%CI: 0.44-0.88) was associated with a decreased risk of ischemic stroke. 31584351 2019