Source: CLINVAR

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 		T 0.900 CausalMutation CLINVAR Clinical characterization of an APP mutation (V717I) in five Han Chinese families with early-onset Alzheimer's disease. 27838006

2017
dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		T 0.900 CausalMutation CLINVAR Mutational analysis in early-onset familial Alzheimer's disease in Mainland China. 24650794

2014
dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		T 0.900 CausalMutation CLINVAR Early-onset Alzheimer's disease in two Iranian families: a genetic study. 25138979

2014
dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		T 0.900 CausalMutation CLINVAR The familial Alzheimer's disease APPV717I mutation alters APP processing and Tau expression in iPSC-derived neurons. 24524897

2014
dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		T 0.900 CausalMutation CLINVAR Mutations in amyloid precursor protein affect its interactions with presenilin/gamma-secretase. 19281847

2009
dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		A 0.900 CausalMutation CLINVAR Novel mutations and repeated findings of mutations in familial Alzheimer disease. 15776278

2005
dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		T 0.900 CausalMutation CLINVAR Novel mutations and repeated findings of mutations in familial Alzheimer disease. 15776278

2005
dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		T 0.900 CausalMutation CLINVAR Although these data open perspectives for therapy of AD by gamma-secretase inhibition, the neuronal absence of PS1 failed to rescue the cognitive defect, assessed by the object recognition test, of the parent APP[V717I] transgenic mice. 11978821

2002
dbSNP: rs63750264
rs63750264
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		A 0.900 CausalMutation CLINVAR APP717 missense mutation affects the ratio of amyloid beta protein species (A beta 1-42/43 and a beta 1-40) in familial Alzheimer's disease brain. 7806491

1994
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 		A 0.900 CausalMutation CLINVAR A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. 1925564

1991