Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922916
rs193922916
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.740 GeneticVariation BEFREE Furthermore, A673V mutation resulted in stronger dimerization between mutant and wild-type APP, enhanced the lysosomal degradation of the mutant APP, and inhibited γ-secretase cleavage of the mutant C99 to generate amyloid β protein, leading to recessively inherited Alzheimer's disease (AD). 28626014

2017

dbSNP: rs193922916
rs193922916
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.740 GeneticVariation BEFREE Here we reviewed the studies on pathogenic mechanisms associated with the A673V mutation and the first experimental steps toward the development of a novel disease-modifying therapy for AD. 22727994

2012

dbSNP: rs193922916
rs193922916
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.740 GeneticVariation BEFREE Neuropathology of the recessive A673V APP mutation: Alzheimer disease with distinctive features. 20842367

2010

dbSNP: rs193922916
rs193922916
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.740 GeneticVariation BEFREE The highly amyloidogenic effect of the A673V mutation in the homozygous state and its anti-amyloidogenic effect in the heterozygous state account for the autosomal recessive pattern of inheritance and have implications for genetic screening and the potential treatment of Alzheimer's disease. 19286555

2009

dbSNP: rs193922916
rs193922916
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
A 0.740 CausalMutation CLINVAR