APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Disease: Familial Alzheimer Disease (FAD) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750847
rs63750847
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0276496
Disease:
Familial Alzheimer Disease (FAD) 		0.020 GeneticVariation BEFREE In familial Alzheimer's disease (FAD), the APP gene harbors pathogenic variations such as the Swedish (K670N/M671L), Leuven (E682K), and A673V mutations, all of which decrease Aβ(11-40) generation, whereas the protective Icelandic mutation (A673T) increases generation of Aβ(11-40). 27687728 2016
dbSNP: rs63750847
rs63750847
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0276496
Disease:
Familial Alzheimer Disease (FAD) 		0.020 GeneticVariation BEFREE The A598T mutation of amyloid precursor protein APP is linked to a reduction in the incidence rate of Alzheimer's disease (AD). 24646423 2014