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: rs906454643
rs906454643
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease:
Alzheimer's Disease 		0.010 GeneticVariation BEFREE We report a new mutation (p.Ile408Thr, c. 1223T>C) in the PSEN1 gene in one autosomal dominant Late Onset AD patient. 26549787 2016