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
0.860 GeneticVariation UNIPROT Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia. 22481068

2012
dbSNP: rs121918394
rs121918394
APOE
0.860 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670

2012
dbSNP: rs121918394
rs121918394
APOE
0.860 GeneticVariation BEFREE The apolipoprotein E2 (Lys146-->Gln) variant is associated with a dominant form of familial dysbetalipoproteinemia. 10894820

2000
dbSNP: rs121918394
rs121918394
APOE
0.860 GeneticVariation UNIPROT We have identified a kindred in which heterozygosity for an apoE mutant, apoE-1 (Lys146-->Glu), is dominantly associated with the expression of type III hyperlipoproteinemia. 7635945

1995
dbSNP: rs121918394
rs121918394
APOE
0.860 GeneticVariation BEFREE Dominant expression of type III hyperlipoproteinemia. Pathophysiological insights derived from the structural and kinetic characteristics of ApoE-1 (Lys146-->Glu). 7635945

1995
dbSNP: rs121918394
rs121918394
APOE
0.860 GeneticVariation BEFREE Family analyses of the APOE*2(Lys146-->Gln) FD subjects showed that the apo E to apo B ratio in the d < 1.019 g/ml lipoprotein fraction of allele carriers is 3.5 times as high as that found in non-carriers (2.8 vs. 0.8, by wt.). 7980718

1994
dbSNP: rs121918394
rs121918394
APOE
0.860 GeneticVariation UNIPROT Common and rare genotypes of human apolipoprotein E determined by specific restriction profiles of polymerase chain reaction-amplified DNA. 8287539

1994
dbSNP: rs121918394
rs121918394
APOE
0.860 GeneticVariation BEFREE Variable expression of familial dysbetalipoproteinemia in apolipoprotein E*2 (Lys146-->Gln) Allele carriers. 8083367

1994
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 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 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: rs121918394
rs121918394
APOE
0.860 GeneticVariation UNIPROT Identification and characterization of a new variant of apolipoprotein E (apo E-Kochi). 2101409

1991
dbSNP: rs121918394
rs121918394
APOE
0.860 GeneticVariation BEFREE Family studies of the three probands heterozygous for the E*2(lys146----gln) allele showed that this rare allele predisposes to FD with high penetrance. 2313204

1990
dbSNP: rs121918394
rs121918394
APOE
0.860 GeneticVariation UNIPROT Identification of human apolipoprotein E variant gene: apolipoprotein E7 (Glu244,245----Lys244,245). 2738044

1989
dbSNP: rs121918394
rs121918394
APOE
0.860 GeneticVariation UNIPROT Apolipoprotein E3-Leiden contains a seven-amino acid insertion that is a tandem repeat of residues 121-127. 2556398

1989
dbSNP: rs121918394
rs121918394
APOE
G 0.860 CausalMutation CLINVAR

dbSNP: rs121918393
rs121918393
APOE
0.830 GeneticVariation UNIPROT APOE R136S and p.Leu149del induce autosomal dominant FD and a phenotype indistinguishable from FCHL, respectively. 22481068

2012
dbSNP: rs121918393
rs121918393
APOE
0.830 GeneticVariation BEFREE R136S carriers showed dysbetalipoproteinemia, while the lipid phenotype of p.Leu149del carriers was IIa or IIb. 22481068

2012
dbSNP: rs121918393
rs121918393
APOE
0.830 GeneticVariation BEFREE Apo E2-Christchurch (Arg136-->Ser), a rare mutation of the Apo E gene, located in the receptor-binding domain of the protein, has been found to be associated in the vast majority of cases of dysbetalipoproteinemia. 12929622

2003
dbSNP: rs121918393
rs121918393
APOE
0.830 GeneticVariation UNIPROT Dominant expression of type III hyperlipoproteinemia. Pathophysiological insights derived from the structural and kinetic characteristics of ApoE-1 (Lys146-->Glu). 7635945

1995
dbSNP: rs121918393
rs121918393
APOE
0.830 GeneticVariation UNIPROT Common and rare genotypes of human apolipoprotein E determined by specific restriction profiles of polymerase chain reaction-amplified DNA. 8287539

1994
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: rs121918393
rs121918393
APOE
0.830 GeneticVariation UNIPROT Identification and characterization of a new variant of apolipoprotein E (apo E-Kochi). 2101409

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: rs121918393
rs121918393
APOE
0.830 GeneticVariation UNIPROT Identification of human apolipoprotein E variant gene: apolipoprotein E7 (Glu244,245----Lys244,245). 2738044

1989