APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Disease: Dementia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750151
rs63750151
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0497327
Disease:
Dementia 		0.010 GeneticVariation BEFREE Here, we describe a novel missense mutation in the amyloid precursor protein (APP) causing a lysine-to-asparagine substitution at position 687 (APP770; herein, referred to as K16N according to amyloid-β (Aβ) numbering) resulting in an early onset dementia with an autosomal dominant inheritance pattern. 22514144 2012