PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Presenile dementia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63749835
rs63749835
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0011265
Disease:
Presenile dementia 		0.010 GeneticVariation BEFREE Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia. 28532645 2017