rs1275544322, APP

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.020 GeneticVariation BEFREE We identified a missense variant in CLN5 c.A959G (p.Asn320Ser) that segregated with AD. 30037983 2018
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.020 GeneticVariation BEFREE The N405S mutation of PS1 is a major determinant of cortical Abeta deposition but not cerebral amyloid angiopathy in Alzheimer's disease. 10644793 2000