Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750734
rs63750734
APP
0.730 GeneticVariation BEFREE The proband carried an APP missense variant in homozygous state (NM_000484.4: c.2032G>A; NP_000475.1: p.Asp678Asn; rs63750064) and showed a more severe clinical picture than the other AD relatives, as regards the age of onset and the rate of disease progression. 31578030

2019
dbSNP: rs63750734
rs63750734
APP
0.730 GeneticVariation BEFREE Taken together, we established the first iPSC line derived from an AD patient carrying APP-V715M mutation and showed that this iPSC-derived neurons exhibited typical AD pathological features, including a distinct mitochondrial dysfunction. 31308793

2019
dbSNP: rs63750734
rs63750734
APP
0.730 GeneticVariation BEFREE A rare variant in PLD3 (phospholipase D3; Val232Met) segregated with disease status in two independent families and doubled risk for Alzheimer's disease in seven independent case-control series with a total of more than 11,000 cases and controls of European descent. 24336208

2014
dbSNP: rs63750734
rs63750734
APP
0.730 GeneticVariation UNIPROT A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene. 15365148

2004
dbSNP: rs63750734
rs63750734
APP
0.730 GeneticVariation UNIPROT Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer's disease. 15201367

2004
dbSNP: rs63750734
rs63750734
APP
0.730 GeneticVariation UNIPROT An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala). 12034808

2002
dbSNP: rs63750734
rs63750734
APP
0.730 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: rs63750734
rs63750734
APP
0.730 GeneticVariation UNIPROT The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation. 11528419

2001
dbSNP: rs63750734
rs63750734
APP
0.730 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: rs63750734
rs63750734
APP
0.730 GeneticVariation UNIPROT Human aspartic protease memapsin 2 cleaves the beta-secretase site of beta-amyloid precursor protein. 10677483

2000
dbSNP: rs63750734
rs63750734
APP
0.730 GeneticVariation UNIPROT Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene. 10867787

2000
dbSNP: rs63750734
rs63750734
APP
0.730 GeneticVariation UNIPROT Identification of a novel aspartic protease (Asp 2) as beta-secretase. 10656250

1999
dbSNP: rs63750734
rs63750734
APP
0.730 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: rs63750734
rs63750734
APP
0.730 GeneticVariation UNIPROT A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43). 9328472

1997
dbSNP: rs63750734
rs63750734
APP
0.730 GeneticVariation UNIPROT A mutation in codon 717 of the amyloid precursor protein gene in an Australian family with Alzheimer's disease. 8577393

1995
dbSNP: rs63750734
rs63750734
APP
0.730 GeneticVariation UNIPROT Characterization of amyloid fibril beta-peptide in familial Alzheimer's disease with APP717 mutations. 8267572

1993
dbSNP: rs63750734
rs63750734
APP
0.730 GeneticVariation UNIPROT Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region. 1415269

1992
dbSNP: rs63750734
rs63750734
APP
0.730 GeneticVariation UNIPROT A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid. 1302033

1992
dbSNP: rs63750734
rs63750734
APP
0.730 GeneticVariation UNIPROT Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. 1303239

1992
dbSNP: rs63750734
rs63750734
APP
0.730 GeneticVariation UNIPROT Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production. 1465129

1992
dbSNP: rs63750734
rs63750734
APP
0.730 GeneticVariation UNIPROT More missense in amyloid gene. 1303275

1992
dbSNP: rs63750734
rs63750734
APP
0.730 GeneticVariation UNIPROT Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease. 1678058

1991
dbSNP: rs63750734
rs63750734
APP
0.730 GeneticVariation UNIPROT Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. 1671712

1991