APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Disease: Alzheimer's Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1275544322
rs1275544322
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.020 GeneticVariation BEFREE We identified a missense variant in CLN5 c.A959G (p.Asn320Ser) that segregated with AD. 30037983 2018
dbSNP: rs1275544322
rs1275544322
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.020 GeneticVariation BEFREE The N405S mutation of PS1 is a major determinant of cortical Abeta deposition but not cerebral amyloid angiopathy in Alzheimer's disease. 10644793 2000