PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Cerebellar Ataxia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750231
rs63750231
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0007758
Disease:
Cerebellar Ataxia 		0.010 GeneticVariation BEFREE Also, seven out of 12 PS1-E280A patients presented cerebellar ataxia. 21159009 2011