Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation BEFREE Dermal fibroblasts were obtained from a 55 year old male Сaucasian familial Alzheimer's disease (AD) patient carrying heterozygous V717I mutation in the APP gene. 30851551

2019

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation BEFREE In this study, a novel mutation in APP gene, Val669Leu ("Seoul APP"), was reported in a Korean female patient with Alzheimer's disease. 31623876

2019

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation BEFREE In this study, we utilized two animal models of AD to examine and characterize the AD-associated pathology: the Tg2576 Swedish APP (KM670/671NL) and TgCRND8 Swedish plus Indiana APP (KM670/671NL + V717F) lines. 30189875

2018

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
T 0.900 CausalMutation CLINVAR Clinical characterization of an APP mutation (V717I) in five Han Chinese families with early-onset Alzheimer's disease. 27838006

2017

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation BEFREE Alterations in endocytic protein expression with increasing age in the transgenic APP695 V717I London mouse model of amyloid pathology: implications for Alzheimer's disease. 28885485

2017

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation BEFREE To probe for a function of ABCA7 in vivo, we crossed Abca7(-/-) mice with J20 mice, an amyloidogenic transgenic AD mouse model [B6.Cg-Tg(PDGFB-APPSwInd)20Lms/J] expressing a mutant form of human APP bearing both the Swedish (K670N/M671L) and Indiana (V717F) familial AD mutations. 26517904

2015

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation UNIPROT Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians. 24829003

2014

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
T 0.900 CausalMutation CLINVAR The familial Alzheimer's disease APPV717I mutation alters APP processing and Tau expression in iPSC-derived neurons. 24524897

2014

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
T 0.900 CausalMutation CLINVAR Mutational analysis in early-onset familial Alzheimer's disease in Mainland China. 24650794

2014

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
T 0.900 CausalMutation CLINVAR Early-onset Alzheimer's disease in two Iranian families: a genetic study. 25138979

2014

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation BEFREE In this study, we report a 275341 G > C (Val717Leu) mutation in the APP gene in a Japanese family with early onset AD by genetic screening. 22702962

2012

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation BEFREE An early-onset AD transgenic mouse model expressing the double-mutant form of human amyloid precursor protein (APP); Swedish (K670N/M671L) and Indiana (V717F), corroborated in vitro findings by showing lower levels of Aβ and amyloid plaques in the brain, when they were fed a low fat diet enriched in DHA. 20971855

2011

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation UNIPROT EFNS guidelines for the diagnosis and management of Alzheimer's disease. 20831773

2010

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation BEFREE To investigate the regulatory genes responsible for the neuropathology in AD, we performed microarray analysis with APP(V717I)-CT100 transgenic mice, an animal model of AD, and isolated the S100a9 gene, which encodes an inflammation-associated calcium binding protein. 20098622

2010

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation UNIPROT Preventing Alzheimer's disease and cognitive decline. 21500874

2010

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation BEFREE We recently demonstrated that overexpression of ADAM10 in mice transgenic for human AbetaPP (ADAM10 x APP[V717I]) alleviated functional deficits related to Alzheimer's disease. 19221420

2009

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
T 0.900 CausalMutation CLINVAR Mutations in amyloid precursor protein affect its interactions with presenilin/gamma-secretase. 19281847

2009

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation BEFREE Further, overexpression of the SUMO E2 enzyme ubc9 along with SUMO-1 results in decreased levels of Abeta aggregates in cells transfected with the familial Alzheimer's disease-associated V642F mutant APP, indicating the potential of up-regulating activity of the cellular sumoylation machinery as an approach against Alzheimer's disease. 18675254

2008

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation BEFREE Levels of both APP-BP1 and Rab5 are elevated in early endosomes in cortical embryonic neurons expressing APP(V642I) or APP-BP1, in cultured skin fibroblast cells from Down syndrome subjects, and in postmortem hippocampal tissue of individuals with AD. 17611268

2007

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
A 0.900 CausalMutation CLINVAR Novel mutations and repeated findings of mutations in familial Alzheimer disease. 15776278

2005

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation BEFREE We report the effects of amyloid precursor protein (APP) fragment 714-723 (APP(714-723); peptide P1) and its V717F and V717G mutants (peptides P2 and P3, respectively) on G-protein activity ([35S]GTPgammaS binding) in membranes from postmortem human control and Alzheimer's disease (AD) brains. 15614786

2005

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
T 0.900 CausalMutation CLINVAR Novel mutations and repeated findings of mutations in familial Alzheimer disease. 15776278

2005

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation BEFREE In a "combined" model, expressing both tau(V337M) and the familial amyloid precursor protein AD mutation APP(V717I) in a CT100 fragment, age-dependent tau phosphorylation occurred at the same sites and was significantly augmented compared to "single" tau(V337M) mice. 15601849

2005

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation BEFREE Transgenic mice over-expressing a mutated form of the human amyloid precursor protein (APP, 695 isoform) bearing a mutation associated with Alzheimer's disease (V642I, so-called London mutation, hereafter APPLd2) and wild-type controls were studied at age periods (3 and 10 months) prior to the overt development of neuritic amyloid plaques. 15380017

2004

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation BEFREE Here we report on a transgenic mouse line, named Tg-APP (Sw, V717F)/B6, that expresses the human amyloid precursor protein (APP) containing the Swedish and the V717F Indiana mutations in the brains of inbred C57BL/6 mice, designed to eliminate the potential phenotypic variations attributed to the compound genetic backgrounds adopted in most AD mouse models. 15114629

2004