Gene: APOE ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918394
rs121918394
APOE
G 0.860 CausalMutation CLINVAR

dbSNP: rs121918393
rs121918393
APOE
A 0.830 CausalMutation CLINVAR

dbSNP: rs429358
rs429358
APOE
0.730 GeneticVariation UNIPROT

dbSNP: rs121918396
rs121918396
APOE
A 0.700 CausalMutation CLINVAR

dbSNP: rs397514253
rs397514253
APOE
G 0.700 CausalMutation CLINVAR

dbSNP: rs7412
rs7412
APOE
0.700 GeneticVariation UNIPROT

dbSNP: rs769455
rs769455
APOE
0.760 GeneticVariation BEFREE Heterozygosity for apolipoprotein E-4Philadelphia(Glu13----Lys, Arg145----Cys) is associated with incomplete dominance of type III hyperlipoproteinemia. 1352296

1992
dbSNP: rs201672011
rs201672011
APOE
0.720 GeneticVariation BEFREE Heterozygosity for apolipoprotein E-4Philadelphia(Glu13----Lys, Arg145----Cys) is associated with incomplete dominance of type III hyperlipoproteinemia. 1352296

1992
dbSNP: rs573658040
rs573658040
APOE
0.100 GeneticVariation BEFREE Heterozygosity for apolipoprotein E-4Philadelphia(Glu13----Lys, Arg145----Cys) is associated with incomplete dominance of type III hyperlipoproteinemia. 1352296

1992
dbSNP: rs11542041
rs11542041
APOE
0.100 GeneticVariation BEFREE We propose that the single base deletion in the apo E gene which is the cause of a non-functional 'null' allele in addition to a probably dominant apo E1 (Gly127-->Asp, Arg158-->Cys) variant of late or incomplete penetrance are the primary genetic defects in this kindred leading to severe dysbetalipoproteinemia. 1360898

1992
dbSNP: rs267606664
rs267606664
APOE
0.010 GeneticVariation BEFREE We propose that the single base deletion in the apo E gene which is the cause of a non-functional 'null' allele in addition to a probably dominant apo E1 (Gly127-->Asp, Arg158-->Cys) variant of late or incomplete penetrance are the primary genetic defects in this kindred leading to severe dysbetalipoproteinemia. 1360898

1992
dbSNP: rs121918394
rs121918394
APOE
0.860 GeneticVariation UNIPROT Familial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene. 1361196

1992
dbSNP: rs121918393
rs121918393
APOE
0.830 GeneticVariation UNIPROT Familial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene. 1361196

1992
dbSNP: rs769455
rs769455
APOE
0.760 GeneticVariation UNIPROT Familial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene. 1361196

1992
dbSNP: rs387906567
rs387906567
APOE
0.730 GeneticVariation UNIPROT Familial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene. 1361196

1992
dbSNP: rs201672011
rs201672011
APOE
0.720 GeneticVariation UNIPROT Familial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene. 1361196

1992
dbSNP: rs121918397
rs121918397
APOE
0.700 GeneticVariation UNIPROT Familial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene. 1361196

1992
dbSNP: rs121918394
rs121918394
APOE
0.860 GeneticVariation BEFREE ApoE mutations that occur in the binding domain, e.g., apoE2 (Lys146----Gln) have a direct effect on the ligand-receptor binding and, in these individuals, FD is inherited in an autosomal dominant way. 1588125

1992
dbSNP: rs121918394
rs121918394
APOE
0.860 GeneticVariation UNIPROT Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia. 1674745

1991
dbSNP: rs121918393
rs121918393
APOE
0.830 GeneticVariation UNIPROT Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia. 1674745

1991
dbSNP: rs769455
rs769455
APOE
0.760 GeneticVariation UNIPROT Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia. 1674745

1991
dbSNP: rs769455
rs769455
APOE
0.760 GeneticVariation BEFREE Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia. 1674745

1991
dbSNP: rs387906567
rs387906567
APOE
0.730 GeneticVariation UNIPROT Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia. 1674745

1991
dbSNP: rs201672011
rs201672011
APOE
0.720 GeneticVariation UNIPROT Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia. 1674745

1991
dbSNP: rs201672011
rs201672011
APOE
0.720 GeneticVariation BEFREE Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia. 1674745

1991