TUBB4A, tubulin beta 4A class IVa, 10382

N. diseases: 107; N. variants: 29
Source: ALL
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: rs587776983
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
dbSNP: rs483352809
rs483352809
0.882 0.120 19 6495754 missense variant C/T snv
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 4 2013 2014
dbSNP: rs587777429
rs587777429
1.000 0.120 19 6496032 missense variant C/A;T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 20 2002 2017
dbSNP: rs587777429
rs587777429
1.000 0.120 19 6496032 missense variant C/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 20 2002 2017
dbSNP: rs886039470
rs886039470
1.000 0.120 19 6495714 missense variant C/T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 20 2002 2017
dbSNP: rs886039470
rs886039470
1.000 0.120 19 6495714 missense variant C/T snv
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 6 2014 2018
dbSNP: rs587776983
rs587776983
0.807 0.240 19 6502209 missense variant G/A;C;T snv
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2013 2014
dbSNP: rs587777467
rs587777467
1.000 0.120 19 6502208 missense variant C/G;T snv 5.7E-06
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2014 2014
dbSNP: rs587777468
rs587777468
1.000 0.120 19 6495966 missense variant G/A;C snv
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2014 2016
dbSNP: rs767399782
rs767399782
0.925 0.120 19 6495736 missense variant C/A;T snv 4.0E-06
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2014 2017
dbSNP: rs797045074
rs797045074
0.882 0.120 19 6495335 missense variant C/G;T snv
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2014 2016
dbSNP: rs886041009
rs886041009
1.000 0.120 19 6495783 missense variant C/A snv
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2014 2014
dbSNP: rs886041010
rs886041010
1.000 0.120 19 6495768 missense variant C/A;T snv
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2014 2016
dbSNP: rs587777428
rs587777428
0.925 0.120 19 6495271 missense variant C/T snv
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587777429
rs587777429
1.000 0.120 19 6496032 missense variant C/A;T snv
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination
0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C0231471
Disease: Abnormal posture
Abnormal posture
Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C1836830
Disease: Developmental regression
Developmental regression
Mental Disorders 0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy
0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus
Eye Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C4520981
Disease: Abnormality of the basal ganglia
Abnormality of the basal ganglia
0.700 1.000 1 2014 2014
dbSNP: rs748787734
rs748787734
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05
CUI: C0013421
Disease: Dystonia
Dystonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2014 2014