PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Alzheimer Disease, Late Onset ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs115865530
rs115865530
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset 		0.010 GeneticVariation BEFREE A Novel PSEN1 K311R Mutation Discovered in Chinese Families with Late-Onset Alzheimer's Disease Affects Amyloid-β Production and Tau Phosphorylation. 28269784 2017