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: rs779296437
rs779296437
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease:
Alzheimer's Disease 		0.010 GeneticVariation BEFREE A novel presenilin 1 mutation, I202F occurring at a previously predicted pathogenic site causing autosomal dominant Alzheimer's disease. 21144619 2011