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: rs63750888
rs63750888
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
0.010 GeneticVariation BEFREE A presenilin-1 mutation (T245P) in transmembrane domain 6 causes early onset Alzheimer's disease. 16469444 2006