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: C0242339
Disease:
Dyslipidemias
0.020 GeneticVariation BEFREE After taking into account confounding factors and correcting for multiple comparisons only APOE rs429358 and rs7412 variants remained significantly associated with risk of dyslipidemia. 26043189 2015
dbSNP: rs429358
rs429358
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0242339
Disease:
Dyslipidemias
0.020 GeneticVariation BEFREE ApoE4 which differs from apoE3 by the single amino acid substitution Cys112Arg is also associated with dyslipidemia although binding of this isoform to the LDLR is unaffected. 25328986 2014
dbSNP: rs7412
rs7412
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0242339
Disease:
Dyslipidemias
0.010 GeneticVariation BEFREE After taking into account confounding factors and correcting for multiple comparisons only APOE rs429358 and rs7412 variants remained significantly associated with risk of dyslipidemia. 26043189 2015
dbSNP: rs573658040
rs573658040
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0242339
Disease:
Dyslipidemias
0.010 GeneticVariation BEFREE Prevalence of the apolipoprotein E Arg145Cys dyslipidemia at-risk polymorphism in African-derived populations. 24239320 2014
dbSNP: rs769455
rs769455
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0242339
Disease:
Dyslipidemias
0.010 GeneticVariation BEFREE Prevalence of the apolipoprotein E Arg145Cys dyslipidemia at-risk polymorphism in African-derived populations. 24239320 2014
dbSNP: rs387906567
rs387906567
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0242339
Disease:
Dyslipidemias
0.010 GeneticVariation BEFREE The prevention of apoE4[R142C]-induced dyslipidemia by deletion of the 203-299 residues suggests that, in the full-length protein, the R142C substitution may have altered the conformation of apoE bound to VLDL/IDL/LDL in ways that prevent triglyceride hydrolysis, cholesterol esterification, and receptor-mediated clearance in vivo. 20861163 2011
dbSNP: rs11542035
rs11542035
Entrez Id: 348
Gene Symbol: APOE
APOE
CUI: C0242339
Disease:
Dyslipidemias
0.010 GeneticVariation BEFREE Identification and characterization of a novel apolipoprotein E variant, apolipoprotein E3' (Arg136-->His): association with mild dyslipidemia and double pre-beta very low density lipoproteins. 7706948 1995