Gene: APP ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750066
rs63750066
APP
0.730 GeneticVariation UNIPROT This indicates that the A713T mutation of the APP gene, lying at the gamma-secretase cleavage site, can be responsible for AD with symptomatic cerebral amyloid angiopathy. 15365148

2004
dbSNP: rs63750064
rs63750064
APP
0.720 GeneticVariation UNIPROT The production and accumulation of mutated Abeta (Asn7-Abeta) or the misfunction of D678N mutant APP may have pathogenic properties for the development of Alzheimer's disease in this pedigree. 15201367

2004
dbSNP: rs63750264
rs63750264
APP
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
0.900 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 The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation. 11528419

2001
dbSNP: rs63750066
rs63750066
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 The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation. 11528419

2001
dbSNP: rs63750064
rs63750064
APP
0.720 GeneticVariation UNIPROT The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation. 11528419

2001
dbSNP: rs63749964
rs63749964
APP
0.710 GeneticVariation UNIPROT The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation. 11528419

2001
dbSNP: rs63750399
rs63750399
APP
0.700 GeneticVariation UNIPROT The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation. 11528419

2001
dbSNP: rs63750643
rs63750643
APP
0.700 GeneticVariation UNIPROT The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation. 11528419

2001
dbSNP: rs281865161
rs281865161
APP
GA 0.700 CausalMutation CLINVAR Swedish mutant APP suppresses osteoblast differentiation and causes osteoporotic deficit, which are ameliorated by N-acetyl-L-cysteine. 23649480

2013
dbSNP: rs63750264
rs63750264
APP
0.900 GeneticVariation UNIPROT Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. 1671712

1991
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
dbSNP: rs63750066
rs63750066
APP
0.730 GeneticVariation UNIPROT Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. 1671712

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
dbSNP: rs63750064
rs63750064
APP
0.720 GeneticVariation UNIPROT Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. 1671712

1991
dbSNP: rs63749964
rs63749964
APP
0.710 GeneticVariation UNIPROT Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. 1671712

1991
dbSNP: rs63750399
rs63750399
APP
0.700 GeneticVariation UNIPROT Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. 1671712

1991
dbSNP: rs63750643
rs63750643
APP
0.700 GeneticVariation UNIPROT Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. 1671712

1991
dbSNP: rs63750264
rs63750264
APP
0.900 GeneticVariation UNIPROT Preventing Alzheimer's disease and cognitive decline. 21500874

2010
dbSNP: rs63750066
rs63750066
APP
0.730 GeneticVariation UNIPROT Preventing Alzheimer's disease and cognitive decline. 21500874

2010
dbSNP: rs63750264
rs63750264
APP
0.900 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 Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. 1303239

1992
dbSNP: rs63750066
rs63750066
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