PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Alzheimer's Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750815
rs63750815
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease:
Alzheimer's Disease 		0.010 GeneticVariation BEFREE A novel mutation (V89L) in the presenilin 1 (PSEN1) gene is described in a family with pathologically confirmed Alzheimer's disease. 11796781 2002