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: rs910956017
rs910956017 		0.925 0.120 6 152269178 stop gained G/A snv 4.0E-06
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
dbSNP: rs763325410
rs763325410 		1.000 0.080 6 152230594 stop gained G/A;C snv 4.0E-06; 4.0E-06
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
dbSNP: rs755531859
rs755531859 		1.000 0.080 6 152510340 missense variant A/T snv 4.0E-06
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
dbSNP: rs759460806
rs759460806 		1.000 0.080 6 152318265 splice acceptor variant T/C;G snv 4.0E-06; 2.0E-05
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
dbSNP: rs746328978
rs746328978 		0.925 0.120 6 152308620 stop gained G/A;T snv 8.4E-06
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
dbSNP: rs119103243
rs119103243 		1.000 0.080 6 152381320 stop gained T/A snv 2.8E-05 7.0E-06
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
dbSNP: rs606231134
rs606231134 		0.925 0.120 6 152321898 intron variant T/C snv 3.2E-05 3.5E-05
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