Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200703101
rs200703101
APOE
CUI: C4025650
Disease: Abnormality of lipid metabolism
Abnormality of lipid metabolism 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs7412
rs7412
APOE
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		T 0.700 GeneticVariation GWASCAT Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib. 28753643

2017
dbSNP: rs1233347077
rs1233347077
APOE
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 GeneticVariation BEFREE We identified four genetic risk sets for acute myocardial infarction (AMI) from information on functional gene variants that favor inflammation or modulate cholesterol metabolism: IL6 -174 G/C, TNF -308 G/A, IL10 -1082 G/A, SERPINA3 -51 G/T, IFNG +874 T/A, HMGCR -911 C/A, and APOE epsilon2/3/4; 316 patients and 461 healthy subjects, all Italian. 18056971

2007
dbSNP: rs429358
rs429358
APOE
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.720 GeneticVariation BEFREE In this study, we investigated the association between ApoE C112R/R158C single nucleotide polymorphisms (which determine the E2, E3, and E4 isoforms) and age-related macular degeneration (AMD), and the mechanism underlying the association. 16823865

2006
dbSNP: rs429358
rs429358
APOE
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.720 GeneticVariation BEFREE This study aimed to evaluate the association of AMD with ApoE gene polymorphism variants (rs7412 and rs429358). 29851526

2018
dbSNP: rs429358
rs429358
APOE
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.720 GeneticVariation GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988

2016
dbSNP: rs7412
rs7412
APOE
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 GeneticVariation BEFREE This study aimed to evaluate the association of AMD with ApoE gene polymorphism variants (rs7412 and rs429358). 29851526

2018
dbSNP: rs405509
rs405509
APOE
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 GeneticVariation BEFREE This would also imply that genotyping of the core epsilon-haplotypes alone is not sufficient to estimate AMD risk, but that determination of extended haplotype combinations, including the functional promoter SNP rs405509, is required instead. 19384966

2009
dbSNP: rs11542041
rs11542041
APOE
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 GeneticVariation BEFREE In this study, we investigated the association between ApoE C112R/R158C single nucleotide polymorphisms (which determine the E2, E3, and E4 isoforms) and age-related macular degeneration (AMD), and the mechanism underlying the association. 16823865

2006
dbSNP: rs405509
rs405509
APOE
CUI: C0236848
Disease: Age-related cognitive decline
Age-related cognitive decline 		0.010 GeneticVariation BEFREE These results demonstrate that the rs405509 T/T allele of APOE causes an age-related cognitive decline in non-demented elderly people, possibly by modulating brain network communication efficiency, which may be beneficial for understanding the neural mechanisms of rs405509-related cognitive aging and AD pathogenesis. 27636845

2017
dbSNP: rs429358
rs429358
APOE
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		0.010 GeneticVariation BEFREE Furthermore, individuals with the combined polymorphisms (LRP5-rs682429-AA and APOE-rs429358-CC/CT) had higher levels of low-density lipoprotein cholesterol, higher levels of TC and decreased odds for generalized aggressive periodontitis. 25329009

2015
dbSNP: rs429358
rs429358
APOE
CUI: C1863051
Disease: ALZHEIMER DISEASE 2
ALZHEIMER DISEASE 2 		C 0.800 CausalMutation CLINVAR

dbSNP: rs429358
rs429358
APOE
CUI: C1863051
Disease: ALZHEIMER DISEASE 2
ALZHEIMER DISEASE 2 		0.800 GeneticVariation UNIPROT

dbSNP: rs429358
rs429358
APOE
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		C 0.700 SusceptibilityMutation CLINVAR APOE4-specific changes in Aβ accumulation in a new transgenic mouse model of Alzheimer disease. 23060451

2012
dbSNP: rs429358
rs429358
APOE
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		C 0.700 SusceptibilityMutation CLINVAR Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy. 23296339

2013
dbSNP: rs429358
rs429358
APOE
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		C 0.700 SusceptibilityMutation CLINVAR Dominant negative effects of apolipoprotein E4 revealed in transgenic models of neurodegenerative disease. 10799751

2000
dbSNP: rs429358
rs429358
APOE
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		C 0.700 SusceptibilityMutation CLINVAR Association between apolipoprotein E gene polymorphism and the risk of vascular dementia: a meta-analysis. 22381401

2012
dbSNP: rs429358
rs429358
APOE
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		C 0.700 SusceptibilityMutation CLINVAR Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. 9343467

1997
dbSNP: rs429358
rs429358
APOE
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		C 0.700 SusceptibilityMutation CLINVAR Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans. 23571587

2013
dbSNP: rs429358
rs429358
APOE
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		C 0.700 SusceptibilityMutation CLINVAR Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians. 27260402

2016
dbSNP: rs429358
rs429358
APOE
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		C 0.700 SusceptibilityMutation CLINVAR Longitudinal modeling of age-related memory decline and the APOE epsilon4 effect. 19605830

2009
dbSNP: rs429358
rs429358
APOE
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.040 GeneticVariation BEFREE A significant association was observed between late-onset Alzheimer's disease and the epsilon 4 (112Cys-->Arg) allele of apolipoprotein E; however, no association was detected with apolipoprotein CII. 8024269

1994
dbSNP: rs429358
rs429358
APOE
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.040 GeneticVariation BEFREE Importantly, rs2927438 may represent an APOE-independent LOAD eSNP according to the weak linkage disequilibrium of rs2927438 with the 2 polymorphisms (rs7412 and rs429358) defining the APOE-ε2, -ε3, and -ε4 alleles. 29395286

2018
dbSNP: rs429358
rs429358
APOE
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.040 GeneticVariation BEFREE Predictability models for LOAD were developed incorporating the PRS with APOE SNPs (rs7412 and rs429358), age and gender. 31127079

2019
dbSNP: rs429358
rs429358
APOE
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.040 GeneticVariation BEFREE Two common single-nucleotide polymorphisms (SNPs) in APOE, rs429358 and rs7412, determine the three epsilon alleles that are established genetic risk factors for late-onset Alzheimer's disease (AD), cerebral amyloid angiopathy, and intracerebral hemorrhage (ICH). 24448547

2014