Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750066
rs63750066
APP
T 0.700 GeneticVariation CLINVAR Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series. 30279455

2018

dbSNP: rs63750066
rs63750066
APP
T 0.700 GeneticVariation CLINVAR APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. 28350801

2017

dbSNP: rs429358
rs429358
C 0.700 SusceptibilityMutation CLINVAR Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians. 27260402

2016

dbSNP: rs63750066
rs63750066
APP
T 0.700 GeneticVariation CLINVAR Four samples were shown to be heterozygous for 1 of 3 known causative mutations: p.A713T, p.V717I, and p.V717G; this highlights the importance of screening EOAD patients for causative mutations. 26803359

2016

dbSNP: rs63750066
rs63750066
APP
T 0.700 GeneticVariation CLINVAR Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family. 25948718

2015

dbSNP: rs63750066
rs63750066
APP
T 0.700 GeneticVariation CLINVAR Modeling the Aggregation Propensity and Toxicity of Amyloid-β Variants. 26402770

2015

dbSNP: rs429358
rs429358
C 0.700 SusceptibilityMutation CLINVAR Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy. 23296339

2013

dbSNP: rs429358
rs429358
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: rs63750066
rs63750066
APP
T 0.700 GeneticVariation CLINVAR Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease. 23224319

2013

dbSNP: rs429358
rs429358
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
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
C 0.700 SusceptibilityMutation CLINVAR Longitudinal modeling of age-related memory decline and the APOE epsilon4 effect. 19605830

2009

dbSNP: rs63750066
rs63750066
APP
T 0.700 GeneticVariation CLINVAR AbetaPP A713T mutation in late onset Alzheimer's disease with cerebrovascular lesions. 19363265

2009

dbSNP: rs63750066
rs63750066
APP
T 0.700 GeneticVariation CLINVAR Familial Alzheimer disease associated with A713T mutation in APP. 15488330

2004

dbSNP: rs63750066
rs63750066
APP
T 0.700 GeneticVariation CLINVAR A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene. 15365148

2004

dbSNP: rs429358
rs429358
C 0.700 SusceptibilityMutation CLINVAR Dominant negative effects of apolipoprotein E4 revealed in transgenic models of neurodegenerative disease. 10799751

2000

dbSNP: rs429358
rs429358
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: rs63750066
rs63750066
APP
T 0.700 GeneticVariation CLINVAR More missense in amyloid gene. 1303275

1992

dbSNP: rs63750264
rs63750264
APP
0.080 GeneticVariation BEFREE Novel amyloid precursor protein mutation, Val669Leu ("Seoul APP"), in a Korean patient with early-onset Alzheimer's disease. 31623876

2019

dbSNP: rs63750264
rs63750264
APP
0.080 GeneticVariation BEFREE Clinical characterization of an APP mutation (V717I) in five Han Chinese families with early-onset Alzheimer's disease. 27838006

2017

dbSNP: rs63750264
rs63750264
APP
0.080 GeneticVariation BEFREE A guanine-to-adenine transition in exon 17 of the APP gene resulting in a valine-to-isoleucine substitution at codon 717 was detected in 14 subjects including 6 patients with EOAD. 25138979

2014

dbSNP: rs63750264
rs63750264
APP
0.080 GeneticVariation BEFREE The London APP mutation (Val717Ile) associated with early shifting abilities and behavioral changes in two Italian families with early-onset Alzheimer's disease. 20523046

2010

dbSNP: rs63750264
rs63750264
APP
0.080 GeneticVariation BEFREE In patients with onset < or =70 years (n = 204), we identified one patient carrying the London APP V717I mutation while no patients carried an APP locus duplication, indicating that APP promoter mutations (n = 2) were more frequently associated with increased risk for early-onset Alzheimer's disease. 16931535

2006

dbSNP: rs63750264
rs63750264
APP
0.080 GeneticVariation BEFREE A 30-year-old AD-asymptomatic woman with a V717L mutation that was identified by predictive testing of a family with a history of early-onset AD. 11866650

2002

dbSNP: rs63750264
rs63750264
APP
0.080 GeneticVariation BEFREE Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene. 10867787

2000