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: rs587777127
rs587777127
1.000 16 79211665 stop gained G/C;T snv 4.0E-06; 4.0E-06
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
0.800 1.000 2 2014 2014
dbSNP: rs587777128
rs587777128
1.000 16 78108454 missense variant C/A snv
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
0.800 1.000 2 2014 2014
dbSNP: rs587777248
rs587777248
0.882 0.040 16 78108475 stop gained C/A;T snv 1.6E-05; 8.0E-06
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
0.700 1.000 1 2014 2014
dbSNP: rs751181600
rs751181600
1.000 16 78164284 stop gained G/T snv 4.0E-06
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
0.700 1.000 1 2015 2015
dbSNP: rs1060502727
rs1060502727
0.925 0.040 16 78115155 splice donor variant G/C;T snv 4.0E-06
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
0.700 0
dbSNP: rs1567542020
rs1567542020
0.925 0.040 16 78386926 stop gained G/T snv
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
0.700 0
dbSNP: rs201008667
rs201008667
0.925 0.040 16 78109819 stop gained C/G;T snv 3.2E-05; 3.6E-05
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
0.700 0
dbSNP: rs756762196
rs756762196
0.851 0.120 16 78425054 stop gained C/G;T snv 1.6E-05
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
0.700 0
dbSNP: rs878855021
rs878855021
0.925 0.040 16 78425043 stop gained C/G snv
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
0.700 0