rs587777074
|
0.790 |
0.240 |
19 |
6495688 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Central neuroblastoma
|
Neoplasms; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs587777074
|
0.790 |
0.240 |
19 |
6495688 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Neuroblastoma
|
Neoplasms
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs587777074
|
0.790 |
0.240 |
19 |
6495688 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Childhood Neuroblastoma
|
Neoplasms
|
0.010 |
1.000 |
1 |
2018 |
2018 |
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 |
rs587776983
|
0.807 |
0.240 |
19 |
6502209 |
missense variant |
G/A;C;T
|
snv
|
|
|
Encephalopathies
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs587776983
|
0.807 |
0.240 |
19 |
6502209 |
missense variant |
G/A;C;T
|
snv
|
|
|
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.810 |
1.000 |
1 |
2017 |
2017 |
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 |
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 |
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 |
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 |
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 |
rs886041013
|
1.000 |
0.120 |
19 |
6495558 |
missense variant |
G/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 |
rs886041017
|
1.000 |
0.120 |
19 |
6495408 |
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 |
2015 |
2015 |
rs886041022
|
1.000 |
0.120 |
19 |
6495318 |
missense variant |
A/C
|
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 |
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 |
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
|
|
|
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 |
rs587776983
|
0.807 |
0.240 |
19 |
6502209 |
missense variant |
G/A;C;T
|
snv
|
|
|
Dysphonia
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |