Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 GeneticVariation UNIPROT A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid. 1302033

1992
dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		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: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 GeneticVariation UNIPROT Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region. 1415269

1992
dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 GeneticVariation UNIPROT Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production. 1465129

1992
dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 GeneticVariation UNIPROT More missense in amyloid gene. 1303275

1992
dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		A 0.900 CausalMutation CLINVAR A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. 1925564

1991
dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		T 0.900 CausalMutation CLINVAR A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. 1925564

1991
dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 GeneticVariation UNIPROT Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. 1671712

1991
dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 GeneticVariation UNIPROT Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease. 1678058

1991