Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 ×
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: rs1554902760
rs1554902760 		1.000 10 100238126 stop gained C/A snv
CUI: C4015301
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 		0.700 0
dbSNP: rs587780326
rs587780326 		1.000 10 100245798 splice donor variant C/T snv 1.4E-04 7.0E-05
CUI: C4015301
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 		0.700 0
dbSNP: rs879255653
rs879255653 		1.000 10 100245817 stop gained T/A;G snv 4.0E-06
CUI: C4015301
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 		0.700 0
dbSNP: rs879255654
rs879255654 		1.000 10 100256299 frameshift variant G/- delins
CUI: C4015301
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 		0.700 0