SETX, senataxin, 23064

N. diseases: 133; N. variants: 39
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045067
rs797045067
Entrez Id: 23064
Gene Symbol: SETX
SETX
CUI: C1853761
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		G 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016