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: rs398122959
rs398122959
0.925 0.120 11 6615199 missense variant A/C snv 4.0E-06 1.4E-05
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs119455955
rs119455955
0.851 0.120 11 6617040 stop gained G/A snv 2.2E-04 2.4E-04
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs119455957
rs119455957
0.882 0.120 11 6616696 missense variant C/A snv 8.0E-06 7.0E-06
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs56144125
rs56144125
0.827 0.240 11 6617154 splice acceptor variant C/A;G;T snv 4.0E-04; 1.2E-05
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs756564767
rs756564767
0.882 0.120 11 6617627 stop gained G/A snv 6.4E-05 4.2E-05
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs886037833
rs886037833
1.000 0.080 11 6616361 missense variant C/G snv
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0