Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs769455
rs769455
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.760 GeneticVariation UNIPROT Identification and characterization of a new variant of apolipoprotein E (apo E-Kochi). 2101409

1991
dbSNP: rs769455
rs769455
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		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: rs769455
rs769455
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.760 GeneticVariation UNIPROT Common and rare genotypes of human apolipoprotein E determined by specific restriction profiles of polymerase chain reaction-amplified DNA. 8287539

1994
dbSNP: rs769455
rs769455
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.760 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: rs769455
rs769455
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		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
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.760 GeneticVariation UNIPROT Identification of human apolipoprotein E variant gene: apolipoprotein E7 (Glu244,245----Lys244,245). 2738044

1989
dbSNP: rs769455
rs769455
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.760 GeneticVariation UNIPROT Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia. 22481068

2012
dbSNP: rs769455
rs769455
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.760 GeneticVariation UNIPROT Apolipoprotein E3-Leiden contains a seven-amino acid insertion that is a tandem repeat of residues 121-127. 2556398

1989
dbSNP: rs769455
rs769455
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.760 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670

2012
dbSNP: rs769455
rs769455
APOE
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584

2019
dbSNP: rs769455
rs769455
APOE
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 GeneticVariation GWASCAT Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. 24507774

2014
dbSNP: rs769455
rs769455
APOE
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.700 GeneticVariation UNIPROT APOE p.Leu167del mutation in familial hypercholesterolemia. 24267230

2013
dbSNP: rs769455
rs769455
APOE
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 GeneticVariation GWASCAT Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. 24507774

2014
dbSNP: rs769455
rs769455
APOE
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.700 GeneticVariation UNIPROT Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation. 22949395

2013
dbSNP: rs769455
rs769455
APOE
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		C 0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422

2018
dbSNP: rs769455
rs769455
APOE
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.700 GeneticVariation UNIPROT Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France. 26802169

2016
dbSNP: rs769452
rs769452
APOE
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		C 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk. 30617256

2019
dbSNP: rs769452
rs769452
APOE
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.700 GeneticVariation UNIPROT Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France. 26802169

2016
dbSNP: rs769452
rs769452
APOE
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.700 GeneticVariation UNIPROT APOE p.Leu167del mutation in familial hypercholesterolemia. 24267230

2013
dbSNP: rs769452
rs769452
APOE
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.700 GeneticVariation UNIPROT Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation. 22949395

2013
dbSNP: rs769450
rs769450
APOE
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 GeneticVariation GWASDB Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project. 22629316

2012
dbSNP: rs769450
rs769450
APOE
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 GeneticVariation GWASDB Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project. 22629316

2012
dbSNP: rs769450
rs769450
APOE
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs769450
rs769450
APOE
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012
dbSNP: rs769450
rs769450
APOE
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622

2012