Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750671
rs63750671
APP
0.760 GeneticVariation BEFREE Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction. 27206484

2016
dbSNP: rs63750671
rs63750671
APP
0.760 GeneticVariation BEFREE Studying more than 6000 amyloid plaques immunostained for total Aβ (Aβt), Aβ40 or Aβ42, we show here that Aβ40 FD could efficiently differentiate between (i) AD patients and aged-control individuals (P<0.001); (ii) sporadic and familial AD due to presenilin-1 or APP (A692G) mutations (P<0.001); and (iii) three transgenic mouse models of different genotypes (P<0.001). 20015575

2011
dbSNP: rs63750671
rs63750671
APP
0.760 GeneticVariation UNIPROT A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene. 15365148

2004
dbSNP: rs63750671
rs63750671
APP
0.760 GeneticVariation UNIPROT Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer's disease. 15201367

2004
dbSNP: rs63750671
rs63750671
APP
0.760 GeneticVariation UNIPROT An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala). 12034808

2002
dbSNP: rs63750671
rs63750671
APP
0.760 GeneticVariation BEFREE While patients with the Dutch APP mutation (E693Q) have predominantly hemorrhagic strokes, Flemish APP (A692G) patients develop both strokes and Alzheimer's disease (AD). 12505425

2002
dbSNP: rs63750671
rs63750671
APP
0.760 GeneticVariation BEFREE We earlier described a Flemish APP (A692G) mutation causing a form of early-onset AD with a prominent cerebral amyloid angiopathy and unusually large senile plaque cores. 12163376

2002
dbSNP: rs63750671
rs63750671
APP
0.760 GeneticVariation BEFREE This was unusually severe CAA reminiscent of the Flemish amyloid precursor protein (A692G) mutation we reported previously, which causes Alzheimer's disease and/or cerebral haemorrhages. 11701593

2001
dbSNP: rs63750671
rs63750671
APP
0.760 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: rs63750671
rs63750671
APP
0.760 GeneticVariation UNIPROT The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation. 11528419

2001
dbSNP: rs63750671
rs63750671
APP
0.760 GeneticVariation UNIPROT Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene. 10867787

2000
dbSNP: rs63750671
rs63750671
APP
0.760 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: rs63750671
rs63750671
APP
0.760 GeneticVariation UNIPROT Human aspartic protease memapsin 2 cleaves the beta-secretase site of beta-amyloid precursor protein. 10677483

2000
dbSNP: rs63750671
rs63750671
APP
0.760 GeneticVariation BEFREE The contribution of mutations in the amyloid precursor protein (APP) gene known as Flemish (APP/A692G) and Dutch (APP/E693Q) to the pathogenesis of Alzheimer's disease and hereditary cerebral hemorrhage with amyloidosis of the Dutch type, respectively, was studied in transgenic mice that overexpress the mutant APP in brain. 10671319

2000
dbSNP: rs63750671
rs63750671
APP
0.760 GeneticVariation UNIPROT Identification of a novel aspartic protease (Asp 2) as beta-secretase. 10656250

1999
dbSNP: rs63750671
rs63750671
APP
0.760 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: rs63750671
rs63750671
APP
0.760 GeneticVariation UNIPROT A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43). 9328472

1997
dbSNP: rs63750671
rs63750671
APP
0.760 GeneticVariation UNIPROT A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer's disease. 8577393

1995
dbSNP: rs63750671
rs63750671
APP
0.760 GeneticVariation UNIPROT Characterization of amyloid fibril beta-peptide in familial Alzheimer's disease with APP717 mutations. 8267572

1993
dbSNP: rs63750671
rs63750671
APP
0.760 GeneticVariation UNIPROT Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region. 1415269

1992
dbSNP: rs63750671
rs63750671
APP
0.760 GeneticVariation UNIPROT Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. 1303239

1992
dbSNP: rs63750671
rs63750671
APP
0.760 GeneticVariation UNIPROT Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production. 1465129

1992
dbSNP: rs63750671
rs63750671
APP
0.760 GeneticVariation UNIPROT More missense in amyloid gene. 1303275

1992
dbSNP: rs63750671
rs63750671
APP
0.760 GeneticVariation UNIPROT A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid. 1302033

1992
dbSNP: rs63750671
rs63750671
APP
0.760 GeneticVariation UNIPROT Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. 1671712

1991