Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1081105
rs1081105
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: rs1081105
rs1081105
APOE
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.700 GeneticVariation GWASCAT GWAS on family history of Alzheimer's disease. 29777097

2018
dbSNP: rs115299243
rs115299243
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: rs115299243
rs115299243
APOE
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		A 0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422

2018
dbSNP: rs121918392
rs121918392
APOE
CUI: C4479658
Disease: HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5
HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918395
rs121918395
APOE
CUI: C4015869
Disease: APOE2-DUNEDIN PHENOTYPE
APOE2-DUNEDIN PHENOTYPE 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121918396
rs121918396
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918397
rs121918397
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.700 GeneticVariation UNIPROT Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. 22962670

2012
dbSNP: rs121918397
rs121918397
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.700 GeneticVariation UNIPROT Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia. 22481068

2012
dbSNP: rs121918397
rs121918397
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.700 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: rs121918397
rs121918397
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.700 GeneticVariation UNIPROT Common and rare genotypes of human apolipoprotein E determined by specific restriction profiles of polymerase chain reaction-amplified DNA. 8287539

1994
dbSNP: rs121918397
rs121918397
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		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: rs121918397
rs121918397
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.700 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: rs121918397
rs121918397
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.700 GeneticVariation UNIPROT Identification and characterization of a new variant of apolipoprotein E (apo E-Kochi). 2101409

1991
dbSNP: rs121918397
rs121918397
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.700 GeneticVariation UNIPROT Identification of human apolipoprotein E variant gene: apolipoprotein E7 (Glu244,245----Lys244,245). 2738044

1989
dbSNP: rs121918397
rs121918397
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		0.700 GeneticVariation UNIPROT Apolipoprotein E3-Leiden contains a seven-amino acid insertion that is a tandem repeat of residues 121-127. 2556398

1989
dbSNP: rs121918398
rs121918398
APOE
CUI: C4015878
Disease: APOE4 VARIANT PHENOTYPE
APOE4 VARIANT PHENOTYPE 		A 0.700 CausalMutation CLINVAR

dbSNP: rs200703101
rs200703101
APOE
CUI: C4025650
Disease: Abnormality of lipid metabolism
Abnormality of lipid metabolism 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs201672011
rs201672011
APOE
CUI: C4479660
Disease: APOE5 VARIANT
APOE5 VARIANT 		A 0.700 CausalMutation CLINVAR

dbSNP: rs267606664
rs267606664
APOE
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.700 GeneticVariation UNIPROT

dbSNP: rs28931576
rs28931576
APOE
CUI: C4015877
Disease: APOE3(-)-FREIBURG PHENOTYPE
APOE3(-)-FREIBURG PHENOTYPE 		G 0.700 CausalMutation CLINVAR

dbSNP: rs28931578
rs28931578
APOE
CUI: C4015880
Disease: APOE2 VARIANT PHENOTYPE
APOE2 VARIANT PHENOTYPE 		A 0.700 CausalMutation CLINVAR

dbSNP: rs28931579
rs28931579
APOE
CUI: C4015881
Disease: APOE4(+) PHENOTYPE
APOE4(+) PHENOTYPE 		C 0.700 CausalMutation CLINVAR

dbSNP: rs397514253
rs397514253
APOE
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III 		G 0.700 CausalMutation CLINVAR

dbSNP: rs405509
rs405509
APOE
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 GeneticVariation GWASDB Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study. 23100282

2013