SETX, senataxin, 23064

N. diseases: 133; N. variants: 39
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs797045067
rs797045067 		1.000 0.080 9 132297006 frameshift variant ATTGCTTTCT/- delins
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2016 2016