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: rs63751037
rs63751037
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset 		0.020 GeneticVariation BEFREE Early-onset Alzheimer's disease with presenilin-1 M139V mutation: clinical, neuropsychological and neuropathological study. 12752408 2003
dbSNP: rs63751037
rs63751037
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset 		0.020 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