PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Alzheimer disease, familial, type 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1566630791
rs1566630791
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		T 0.700 GeneticVariation CLINVAR A novel mutation in PSEN1 (p.T119I) in an Argentine family with early- and late-onset Alzheimer's disease. 31153663 2020