APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Disease: Familial Alzheimer's disease of early onset ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0338445
Disease:
Familial Alzheimer's disease of early onset 		0.010 GeneticVariation BEFREE The missense mutation V717I in amyloid precursor protein (APP) gene has been reported in many early-onset familial Alzheimer's disease (EOFAD) families. 27838006 2017