PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Presenile dementia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751037
rs63751037
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0011265
Disease:
Presenile dementia 		0.010 GeneticVariation BEFREE Herein we report the case of a German EOAD patient with a family history of dementia and a missense mutation at codon 139 (M139V) of the PS-1 gene. 9728730 1998