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
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 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 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 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
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
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
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 UNIPROT Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer's disease. 15201367

2004

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation UNIPROT A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene. 15365148

2004

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation UNIPROT An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala). 12034808

2002

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
T 0.900 CausalMutation CLINVAR Although these data open perspectives for therapy of AD by gamma-secretase inhibition, the neuronal absence of PS1 failed to rescue the cognitive defect, assessed by the object recognition test, of the parent APP[V717I] transgenic mice. 11978821

2002

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation UNIPROT In vitro studies of amyloid beta-protein fibril assembly and toxicity provide clues to the aetiology of Flemish variant (Ala692-->Gly) Alzheimer's disease. 11311152

2001

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation UNIPROT The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation. 11528419

2001

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation UNIPROT Human aspartic protease memapsin 2 cleaves the beta-secretase site of beta-amyloid precursor protein. 10677483

2000

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation UNIPROT Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease. 11063718

2000

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation UNIPROT Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene. 10867787

2000

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation UNIPROT Identification of a novel aspartic protease (Asp 2) as beta-secretase. 10656250

1999

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation UNIPROT Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation. 9754958

1998

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation UNIPROT A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43). 9328472

1997

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation UNIPROT A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer's disease. 8577393

1995

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
A 0.900 CausalMutation CLINVAR APP717 missense mutation affects the ratio of amyloid beta protein species (A beta 1-42/43 and a beta 1-40) in familial Alzheimer's disease brain. 7806491

1994

dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.900 GeneticVariation UNIPROT Characterization of amyloid fibril beta-peptide in familial Alzheimer's disease with APP717 mutations. 8267572

1993