Source: ALL
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 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 APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. 28350801

2017
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: 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 A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene. 15365148

2004
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 More missense in amyloid gene. 1303275

1992
dbSNP: rs63750066
rs63750066
APP
T 0.700 GeneticVariation CLINVAR Modeling the Aggregation Propensity and Toxicity of Amyloid-β Variants. 26402770

2015
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: rs63750264
rs63750264
APP
0.080 GeneticVariation BEFREE Japanese siblings with missense mutation (717Val --> Ile) in amyloid precursor protein of early-onset Alzheimer's disease. 8649577

1996
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
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 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 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 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 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: rs63750215
rs63750215
PSEN2
0.050 GeneticVariation BEFREE Both, the N141I mutation and the V148I mutation described here are located within the predicted TM2 domain and both were found in late-onset AD kindreds, whereas the mutation within the predicted TM5 domain was found in an early-onset AD pedigree. 10732806

1998
dbSNP: rs63750215
rs63750215
PSEN2
0.050 GeneticVariation BEFREE The families from Fulda, Germany, and the American Volga German families with EOAD share the same N141I PSEN2 mutation on an identical haplotypic background. 20457965

2010
dbSNP: rs63750215
rs63750215
PSEN2
0.050 GeneticVariation BEFREE We herein report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 141 (N141I) of the PSEN2 gene. 19073399

2008
dbSNP: rs63750215
rs63750215
PSEN2
0.050 GeneticVariation BEFREE The Asn141Ile mutation of the presenilin 2 gene is responsible for familial early-onset Alzheimer disease found in Volga-German kindreds. 10404731

1999
dbSNP: rs63750215
rs63750215
PSEN2
0.050 GeneticVariation BEFREE Moreover, the AD- associated PS-2 missense mutation (N141I) more efficiently induced cell death compared to wild-type PS-2 despite lower mutant protein accumulation. 9334350

1997
dbSNP: rs63750231
rs63750231
PSEN1
0.050 GeneticVariation BEFREE Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease. 24239249

2014
dbSNP: rs63750231
rs63750231
PSEN1
0.050 GeneticVariation BEFREE An exonic missense mutation in the G72 (DAOA) gene (rs2391191, P = 1.94 × 10(-4), P FDR = 9.34 × 10(-3)) was found to modify AOO in PSEN1 E280A AD. 26949549

2016