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: rs119103265
rs119103265
0.827 0.120 1 12002033 missense variant C/T snv
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.820 1.000 2 2006 2011
dbSNP: rs119103263
rs119103263
0.827 0.240 1 11992659 missense variant C/T snv
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0
dbSNP: rs119103264
rs119103264
1.000 0.080 1 12001411 missense variant A/G snv
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0
dbSNP: rs119103266
rs119103266
1.000 0.080 1 11998787 missense variant C/T snv
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0
dbSNP: rs28940291
rs28940291
0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 4 2006 2015
dbSNP: rs1057517987
rs1057517987
1.000 0.080 1 12004083 stop gained C/T snv
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs119103267
rs119103267
0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs119103268
rs119103268
0.827 0.080 1 11992689 missense variant C/T snv
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1553145402
rs1553145402
1.000 0.080 1 12006658 frameshift variant -/G delins
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs28940292
rs28940292
0.851 0.080 1 12011510 missense variant G/C snv
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs864622480
rs864622480
0.925 0.080 1 11998999 missense variant C/A;G snv
Hereditary motor and sensory neuropathy with optic atrophy (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0