PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Alzheimer's Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750886
rs63750886
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0002395
Disease:
Alzheimer's Disease 		0.010 GeneticVariation BEFREE Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy. 12493737 2003