Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63749810
rs63749810
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		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
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		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
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		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
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		T 0.720 CausalMutation CLINVAR Modeling the Aggregation Propensity and Toxicity of Amyloid-β Variants. 26402770

2015
dbSNP: rs63749810
rs63749810
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		T 0.720 CausalMutation CLINVAR Iowa-type hereditary cerebral amyloid angiopathy in a Polish family. 26104569

2015
dbSNP: rs63749810
rs63749810
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		T 0.720 CausalMutation CLINVAR Familial cerebral amyloid angiopathy due to the Iowa mutation in an Irish family. 24878480

2014
dbSNP: rs63749810
rs63749810
APP
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		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
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		T 0.720 CausalMutation CLINVAR Pathogenic effects of D23N Iowa mutant amyloid beta -protein. 11441013

2001