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: rs113994095
rs113994095
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.810 1.000 11 2003 2016
dbSNP: rs113994097
rs113994097
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 10 2003 2016
dbSNP: rs121918046
rs121918046
0.925 0.160 15 89325520 missense variant G/A snv 1.4E-05
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 9 2003 2006
dbSNP: rs121918048
rs121918048
0.882 0.200 15 89320953 missense variant G/A snv
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 9 2003 2006
dbSNP: rs121918049
rs121918049
0.925 0.200 15 89319053 missense variant C/A;G;T snv 3.2E-05; 2.0E-05; 4.0E-06
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 9 2003 2006
dbSNP: rs121918052
rs121918052
1.000 0.160 15 89327006 missense variant C/G;T snv 1.3E-04; 8.0E-06
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 10 2003 2016
dbSNP: rs61752783
rs61752783
0.882 0.200 15 89326947 missense variant C/A;G snv 4.8E-03; 2.0E-05
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 9 2003 2006
dbSNP: rs769827124
rs769827124
0.882 0.200 15 89322749 missense variant G/A snv 2.4E-05 1.4E-05
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 9 2003 2006
dbSNP: rs113994098
rs113994098
0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121918044
rs121918044
0.807 0.240 15 89329055 missense variant A/C snv 5.7E-05 3.5E-05
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121918054
rs121918054
0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs144500145
rs144500145
0.807 0.240 15 89321780 missense variant G/A snv 4.8E-05 6.3E-05
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs201732356
rs201732356
0.807 0.240 15 89318737 missense variant G/A;C snv 8.0E-06
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs375305567
rs375305567
0.925 0.200 15 89325519 missense variant C/T snv 3.2E-05 7.7E-05
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0