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: rs797045074
rs797045074
0.882 0.120 19 6495335 missense variant C/G;T snv
Abnormal basal ganglia MRI signal intensity
0.700 0
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: C4520981
Disease: Abnormality of the basal ganglia
Abnormality of the basal ganglia
0.700 1.000 1 2014 2014
dbSNP: rs797045074
rs797045074
0.882 0.120 19 6495335 missense variant C/G;T snv
Aplasia/Hypoplasia of the cerebellum
0.700 0
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: rs587777074
rs587777074
0.790 0.240 19 6495688 missense variant C/T snv 4.0E-06
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
Neoplasms; Nervous System Diseases 0.010 1.000 1 2018 2018
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: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination
0.700 1.000 1 2014 2014
dbSNP: rs797045074
rs797045074
0.882 0.120 19 6495335 missense variant C/G;T snv
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination
0.700 0
dbSNP: rs767399782
rs767399782
0.925 0.120 19 6495736 missense variant C/A;T snv 4.0E-06
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
Nervous System Diseases 0.700 0
dbSNP: rs587777074
rs587777074
0.790 0.240 19 6495688 missense variant C/T snv 4.0E-06
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
Neoplasms 0.010 1.000 1 2018 2018
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: C0013362
Disease: Dysarthria
Dysarthria
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587776983
rs587776983
0.807 0.240 19 6502209 missense variant G/A;C;T snv
CUI: C1527344
Disease: Dysphonia
Dysphonia
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 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
dbSNP: rs483352809
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
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: rs587777074
rs587777074
0.790 0.240 19 6495688 missense variant C/T snv 4.0E-06
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587777428
rs587777428
0.925 0.120 19 6495271 missense variant C/T snv
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587776983
rs587776983
0.807 0.240 19 6502209 missense variant G/A;C;T snv
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs483352809
rs483352809
0.882 0.120 19 6495754 missense variant C/T snv
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs587776983
rs587776983
0.807 0.240 19 6502209 missense variant G/A;C;T snv
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs756762431
rs756762431
1.000 0.120 19 6495654 missense variant C/G;T snv 8.0E-06
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs767399782
rs767399782
0.925 0.120 19 6495736 missense variant C/A;T snv 4.0E-06
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs587776983
rs587776983
0.807 0.240 19 6502209 missense variant G/A;C;T snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 1.000 1 2013 2013