rs587777429
|
1.000 |
0.120 |
19 |
6496032 |
missense variant |
C/A;T
|
snv
|
|
|
Movement Disorders
|
Nervous System Diseases
|
0.700 |
1.000 |
20 |
2002 |
2017 |
rs587777429
|
1.000 |
0.120 |
19 |
6496032 |
missense variant |
C/A;T
|
snv
|
|
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
20 |
2002 |
2017 |
rs886039470
|
1.000 |
0.120 |
19 |
6495714 |
missense variant |
C/T
|
snv
|
|
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
20 |
2002 |
2017 |
rs886039470
|
1.000 |
0.120 |
19 |
6495714 |
missense variant |
C/T
|
snv
|
|
|
Leukodystrophy, Hypomyelinating, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2014 |
2018 |
rs483352809
|
0.882 |
0.120 |
19 |
6495754 |
missense variant |
C/T
|
snv
|
|
|
Leukodystrophy, Hypomyelinating, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
4 |
2013 |
2014 |
rs587777467
|
1.000 |
0.120 |
19 |
6502208 |
missense variant |
C/G;T
|
snv
|
5.7E-06
|
|
Leukodystrophy, Hypomyelinating, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2014 |
2014 |
rs587777468
|
1.000 |
0.120 |
19 |
6495966 |
missense variant |
G/A;C
|
snv
|
|
|
Leukodystrophy, Hypomyelinating, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2014 |
2016 |
rs767399782
|
0.925 |
0.120 |
19 |
6495736 |
missense variant |
C/A;T
|
snv
|
4.0E-06
|
|
Leukodystrophy, Hypomyelinating, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2014 |
2017 |
rs797045074
|
0.882 |
0.120 |
19 |
6495335 |
missense variant |
C/G;T
|
snv
|
|
|
Leukodystrophy, Hypomyelinating, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2014 |
2016 |
rs886041009
|
1.000 |
0.120 |
19 |
6495783 |
missense variant |
C/A
|
snv
|
|
|
Leukodystrophy, Hypomyelinating, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2014 |
2014 |
rs886041010
|
1.000 |
0.120 |
19 |
6495768 |
missense variant |
C/A;T
|
snv
|
|
|
Leukodystrophy, Hypomyelinating, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2014 |
2016 |
rs483352809
|
0.882 |
0.120 |
19 |
6495754 |
missense variant |
C/T
|
snv
|
|
|
Encephalopathies
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs483352809
|
0.882 |
0.120 |
19 |
6495754 |
missense variant |
C/T
|
snv
|
|
|
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs483352809
|
0.882 |
0.120 |
19 |
6495754 |
missense variant |
C/T
|
snv
|
|
|
Progressive Neoplastic Disease
|
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs483352809
|
0.882 |
0.120 |
19 |
6495754 |
missense variant |
C/T
|
snv
|
|
|
Progressive cGVHD
|
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs587777428
|
0.925 |
0.120 |
19 |
6495271 |
missense variant |
C/T
|
snv
|
|
|
Leukodystrophy, Hypomyelinating, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs587777429
|
1.000 |
0.120 |
19 |
6496032 |
missense variant |
C/A;T
|
snv
|
|
|
Leukodystrophy, Hypomyelinating, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs756762431
|
1.000 |
0.120 |
19 |
6495654 |
missense variant |
C/G;T
|
snv
|
8.0E-06
|
|
Encephalopathies
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs756762431
|
1.000 |
0.120 |
19 |
6495654 |
missense variant |
C/G;T
|
snv
|
8.0E-06
|
|
Leukodystrophy, Hypomyelinating, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs761635539
|
1.000 |
0.120 |
19 |
6495931 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Leukodystrophy, Hypomyelinating, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs767399782
|
0.925 |
0.120 |
19 |
6495736 |
missense variant |
C/A;T
|
snv
|
4.0E-06
|
|
Encephalopathies
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs886041007
|
1.000 |
0.120 |
19 |
6495769 |
missense variant |
C/T
|
snv
|
|
|
Leukodystrophy, Hypomyelinating, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs886041008
|
1.000 |
0.120 |
19 |
6495955 |
missense variant |
G/T
|
snv
|
|
|
Leukodystrophy, Hypomyelinating, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs886041011
|
1.000 |
0.120 |
19 |
6495625 |
missense variant |
G/T
|
snv
|
|
|
Leukodystrophy, Hypomyelinating, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs886041012
|
1.000 |
0.120 |
19 |
6495599 |
missense variant |
C/A
|
snv
|
|
|
Leukodystrophy, Hypomyelinating, 6
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |