APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
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: C0233514
Disease:
Abnormal behavior
0.020 GeneticVariation BEFREE These transgenic mice showed the same early behavioral disturbances and defects and increased premature death as the APP/London (APP V717I), APP/Swedish (K670N, M671L), and other APP transgenic mice described previously. 10671319 2000
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0233514
Disease:
Abnormal behavior
0.020 GeneticVariation BEFREE The London APP mutation (Val717Ile) associated with early shifting abilities and behavioral changes in two Italian families with early-onset Alzheimer's disease. 20523046 2010
dbSNP: rs63750847
rs63750847
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0236848
Disease:
Age-related cognitive decline
0.020 GeneticVariation BEFREE A673T, a rare variant in the amyloid-β precursor protein gene, shows a protective potential against Alzheimer's disease (AD) and age-related cognitive decline in an Icelandic population. 24126161 2014
dbSNP: rs63750847
rs63750847
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0236848
Disease:
Age-related cognitive decline
0.020 GeneticVariation BEFREE This effect closely mimics the phenotype of APP A673T, a recently discovered mutation that protects carriers against AD and age-related cognitive decline. 28115709 2017
dbSNP: rs281865161
rs281865161
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2931257
Disease:
Alzheimer disease type 1
GA 0.700 CausalMutation CLINVAR
dbSNP: rs63749964
rs63749964
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2931257
Disease:
Alzheimer disease type 1
C 0.700 CausalMutation CLINVAR
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2931257
Disease:
Alzheimer disease type 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2931257
Disease:
Alzheimer disease type 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2931257
Disease:
Alzheimer disease type 1
G 0.700 CausalMutation CLINVAR
dbSNP: rs63750264
rs63750264
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2931257
Disease:
Alzheimer disease type 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs63750399
rs63750399
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2931257
Disease:
Alzheimer disease type 1
C 0.700 CausalMutation CLINVAR
dbSNP: rs63750643
rs63750643
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2931257
Disease:
Alzheimer disease type 1
C 0.700 CausalMutation CLINVAR
dbSNP: rs63750671
rs63750671
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2931257
Disease:
Alzheimer disease type 1
C 0.700 CausalMutation CLINVAR
dbSNP: rs63750734
rs63750734
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2931257
Disease:
Alzheimer disease type 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs63750973
rs63750973
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2931257
Disease:
Alzheimer disease type 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs63751039
rs63751039
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2931257
Disease:
Alzheimer disease type 1
C 0.700 CausalMutation CLINVAR
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
T 0.700 GeneticVariation CLINVAR APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. 28350801 2017
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
T 0.700 GeneticVariation CLINVAR Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease. 23224319 2013
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
T 0.700 GeneticVariation CLINVAR Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family. 25948718 2015
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
T 0.700 GeneticVariation CLINVAR AbetaPP A713T mutation in late onset Alzheimer's disease with cerebrovascular lesions. 19363265 2009
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
T 0.700 GeneticVariation CLINVAR Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series. 30279455 2018
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
T 0.700 GeneticVariation CLINVAR Familial Alzheimer disease associated with A713T mutation in APP. 15488330 2004
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
T 0.700 GeneticVariation CLINVAR A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene. 15365148 2004
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
T 0.700 GeneticVariation CLINVAR Modeling the Aggregation Propensity and Toxicity of Amyloid-β Variants. 26402770 2015
dbSNP: rs63750066
rs63750066
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
T 0.700 GeneticVariation CLINVAR Four samples were shown to be heterozygous for 1 of 3 known causative mutations: p.A713T, p.V717I, and p.V717G; this highlights the importance of screening EOAD patients for causative mutations. 26803359 2016