Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918393
rs121918393
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		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
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		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
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		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
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		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
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		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
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		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
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.830 GeneticVariation UNIPROT Identification and characterization of a new variant of apolipoprotein E (apo E-Kochi). 2101409

1991
dbSNP: rs121918393
rs121918393
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		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
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.830 GeneticVariation UNIPROT Identification of human apolipoprotein E variant gene: apolipoprotein E7 (Glu244,245----Lys244,245). 2738044

1989
dbSNP: rs121918393
rs121918393
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.830 GeneticVariation UNIPROT Apolipoprotein E3-Leiden contains a seven-amino acid insertion that is a tandem repeat of residues 121-127. 2556398

1989
dbSNP: rs121918393
rs121918393
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.830 GeneticVariation BEFREE Apolipoprotein E2-Christchurch (136 Arg----Ser). New variant of human apolipoprotein E in a patient with type III hyperlipoproteinemia. 3038959

1987
dbSNP: rs121918393
rs121918393
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		A 0.830 CausalMutation CLINVAR