PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750900
rs63750900
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease:
Alzheimer's Disease
0.010 GeneticVariation BEFREE The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer's disease. 17188713 2007