rs63749810, APP

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
CUI: C2751536
Disease: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
0.800 GeneticVariation UNIPROT
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
CUI: C2751536
Disease: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
0.800 CausalMutation CLINVAR
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.720 GeneticVariation BEFREE The reported APP-D694N iPSC line may be used to model and study human AD pathology in vitro. 31004935 2019
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.720 GeneticVariation BEFREE In this study we examined circadian behavioral and electrophysiological changes in a mouse model of AD, using male mice from the Tg-SwDI line which expresses human amyloid precursor protein with the familial Swedish (K670N/M671L), Dutch (E693Q), Iowa (D694N) mutations. 29540298 2018
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
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
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
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
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.720 CausalMutation CLINVAR Iowa APP mutation-related hereditary cerebral amyloid angiopathy (CAA): A new family from Spain. 27000221 2016
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.720 CausalMutation CLINVAR Iowa-type hereditary cerebral amyloid angiopathy in a Polish family. 26104569 2015
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.720 CausalMutation CLINVAR Modeling the Aggregation Propensity and Toxicity of Amyloid-β Variants. 26402770 2015
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.720 CausalMutation CLINVAR Familial cerebral amyloid angiopathy due to the Iowa mutation in an Irish family. 24878480 2014
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.720 CausalMutation CLINVAR Iowa variant of familial Alzheimer's disease: accumulation of posttranslationally modified AbetaD23N in parenchymal and cerebrovascular amyloid deposits. 20228223 2010
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.720 CausalMutation CLINVAR Pathogenic effects of D23N Iowa mutant amyloid beta -protein. 11441013 2001
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
0.010 GeneticVariation BEFREE The reported APP-D694N iPSC line may be used to model and study human AD pathology in vitro. 31004935 2019