PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Familial Alzheimer's disease of early onset ×
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: C0338445
Disease:
Familial Alzheimer's disease of early onset 		0.010 GeneticVariation BEFREE The presenilin 1 (PSEN1) L271V mutation causes early-onset familial Alzheimer's disease by disrupting the alternative splicing of the PSEN1 gene, producing some transcripts harboring the L271V point mutation and other transcripts lacking exon 8 (PS1(∆exon8)). 26608390 2015