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: rs63750577
rs63750577
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset 		0.020 GeneticVariation BEFREE Linkage analysis and exome sequencing identified the p.S170F mutation of Presenilin 1 in all affected individuals, which is known to be associated with very early onset Alzheimer's disease. 23415546 2013
dbSNP: rs63750577
rs63750577
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset 		0.020 GeneticVariation BEFREE A 32-year-old woman diagnosed with very rapidly progressing early-onset Alzheimer's disease (EOAD), age of onset 29 years, and S170F mutation in presenilin 1 gene (PSEN1) is presented. 17931627 2007