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: rs1564136499
rs1564136499 		1.000 0.080 6 152453590 stop gained C/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
dbSNP: rs1554753528
rs1554753528 		1.000 0.080 6 152463519 splice acceptor variant T/C 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
dbSNP: rs1554768245
rs1554768245 		0.807 0.160 6 152472395 frameshift variant C/- delins
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: rs1564367104
rs1564367104 		0.925 0.120 6 152483215 frameshift variant GA/- delins
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 1.000 1 2013 2013
dbSNP: rs1203553546
rs1203553546 		1.000 0.080 6 152488422 stop gained C/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
dbSNP: rs1554829141
rs1554829141 		1.000 0.080 6 152510291 frameshift variant AG/- delins
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