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 |
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 |
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 |
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 |
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 |
|
|
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 |
|
|
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 |
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 |
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
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 |