Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) ×
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: rs119103244
rs119103244 		1.000 0.080 6 152201838 stop gained G/A;T snv
CUI: C1853116
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder)
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0