Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750264
rs63750264
APP
A 0.900 CausalMutation CLINVAR A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. 1925564

1991
dbSNP: rs63750264
rs63750264
APP
A 0.900 CausalMutation CLINVAR Novel mutations and repeated findings of mutations in familial Alzheimer disease. 15776278

2005
dbSNP: rs63750264
rs63750264
APP
T 0.900 CausalMutation CLINVAR Novel mutations and repeated findings of mutations in familial Alzheimer disease. 15776278

2005
dbSNP: rs63750264
rs63750264
APP
T 0.900 CausalMutation CLINVAR A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease. 1925564

1991
dbSNP: rs63750264
rs63750264
APP
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
T 0.900 CausalMutation CLINVAR Mutational analysis in early-onset familial Alzheimer's disease in Mainland China. 24650794

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

2014
dbSNP: rs63750264
rs63750264
APP
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
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
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
T 0.900 CausalMutation CLINVAR Mutations in amyloid precursor protein affect its interactions with presenilin/gamma-secretase. 19281847

2009
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
G 0.800 CausalMutation CLINVAR

dbSNP: rs193922916
rs193922916
APP
A 0.740 CausalMutation CLINVAR

dbSNP: rs63749810
rs63749810
APP
T 0.720 CausalMutation CLINVAR Iowa variant of familial Alzheimer's disease: accumulation of posttranslationally modified AbetaD23N in parenchymal and cerebrovascular amyloid deposits. 20228223

2010
dbSNP: rs63749810
rs63749810
APP
T 0.720 CausalMutation CLINVAR Iowa APP mutation-related hereditary cerebral amyloid angiopathy (CAA): A new family from Spain. 27000221

2016
dbSNP: rs63749810
rs63749810
APP
T 0.720 CausalMutation CLINVAR APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. 28350801

2017
dbSNP: rs63749810
rs63749810
APP
T 0.720 CausalMutation CLINVAR Pathogenic effects of D23N Iowa mutant amyloid beta -protein. 11441013

2001
dbSNP: rs63749810
rs63749810
APP
T 0.720 CausalMutation CLINVAR Familial cerebral amyloid angiopathy due to the Iowa mutation in an Irish family. 24878480

2014
dbSNP: rs63749810
rs63749810
APP
T 0.720 CausalMutation CLINVAR Iowa-type hereditary cerebral amyloid angiopathy in a Polish family. 26104569

2015
dbSNP: rs63749810
rs63749810
APP
T 0.720 CausalMutation CLINVAR APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review. 27858710

2017
dbSNP: rs63749810
rs63749810
APP
T 0.720 CausalMutation CLINVAR Modeling the Aggregation Propensity and Toxicity of Amyloid-β Variants. 26402770

2015
dbSNP: rs1566630910
rs1566630910
PSEN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs281865161
rs281865161
APP
GA 0.700 CausalMutation CLINVAR Swedish mutant APP suppresses osteoblast differentiation and causes osteoporotic deficit, which are ameliorated by N-acetyl-L-cysteine. 23649480

2013
dbSNP: rs281865161
rs281865161
APP
GA 0.700 CausalMutation CLINVAR Correlative memory deficits, Abeta elevation, and amyloid plaques in transgenic mice. 8810256

1996
dbSNP: rs281865161
rs281865161
APP
GA 0.700 CausalMutation CLINVAR Marked accumulation of 27-hydroxycholesterol in the brains of Alzheimer's patients with the Swedish APP 670/671 mutation. 21335619

2011