rs199768005, APOE

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alzheimer Disease, Late Onset
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
0.010 GeneticVariation BEFREE The minor allele of p.L28P, which was in complete linkage disequilibrium (D' = 1) with the far more common APOE ϵ4 allele, showed no association with LOAD (P = 0.75) independent of the APOE ϵ4 allele. p.V236E was significantly associated with a marked reduction in risk of LOAD (P = 7.5 × 10⁻⁰⁵; OR = 0.10, 0.03 to 0.45). 24607147 2014
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.010 GeneticVariation BEFREE ApoE variant p.V236E is associated with markedly reduced risk of Alzheimer's disease. 24607147 2014
Hypertriglyceridemia
CUI: C0020557
Disease: Hypertriglyceridemia
0.010 GeneticVariation BEFREE None of the family members carrying APOE*3-(Cys-112-->Arg; Arg-251-->Gly) and/or APOE*2(Val-236-->Glu) exhibited lipoprotein abnormalities characteristic of familial dysbetalipoproteinaemia, although three family members carrying APOE*3-(Cys-112-->Arg; Arg-251-->Gly) showed hypertriglyceridaemia. 8156744 1994
Hyperlipoproteinemia Type III
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
0.010 GeneticVariation BEFREE None of the family members carrying APOE*3-(Cys-112-->Arg; Arg-251-->Gly) and/or APOE*2(Val-236-->Glu) exhibited lipoprotein abnormalities characteristic of familial dysbetalipoproteinaemia, although three family members carrying APOE*3-(Cys-112-->Arg; Arg-251-->Gly) showed hypertriglyceridaemia. 8156744 1994