PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Alzheimer Disease, Early Onset ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751254
rs63751254
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset 		0.010 GeneticVariation BEFREE Sequence analysis disclosed a novel mutation (N405S) in the PS1 gene in a Japanese patient with early-onset Alzheimer's disease. 10644793 2000