TUBB3, tubulin beta 3 class III, 10381

N. diseases: 259; N. variants: 25
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: rs878853256
rs878853256
1.000 16 89935418 missense variant A/G snv
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
0.800 1.000 1 2010 2010
dbSNP: rs878853279
rs878853279
1.000 16 89935613 missense variant A/G snv
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
0.700 0
dbSNP: rs143395134
rs143395134
1.000 0.160 16 89920152 stop gained C/G;T snv 8.0E-06; 8.0E-06; 8.8E-05 1.4E-04
CUI: C0268495
Disease: Oculocutaneous albinism type 2
Oculocutaneous albinism type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1555625363
rs1555625363
0.925 0.080 16 89932649 missense variant C/T snv
Malformations of Cortical Development, Group II
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555625363
rs1555625363
0.925 0.080 16 89932649 missense variant C/T snv
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
0.700 1.000 1 2018 2018
dbSNP: rs267607162
rs267607162
1.000 0.160 16 89935235 missense variant C/T snv
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 1 2010 2010
dbSNP: rs864321717
rs864321717
1.000 0.160 16 89935589 missense variant C/T snv
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 1 2010 2010
dbSNP: rs878853258
rs878853258
1.000 16 89935356 missense variant C/T snv
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
0.800 1.000 1 2010 2010
dbSNP: rs886041459
rs886041459
0.925 0.080 16 89935140 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.010 1.000 1 2016 2016
dbSNP: rs886041459
rs886041459
0.925 0.080 16 89935140 missense variant C/T snv
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs886041459
rs886041459
0.925 0.080 16 89935140 missense variant C/T snv
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs747480526
rs747480526
1.000 16 89934984 missense variant C/T snv 4.0E-06
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
0.800 0
dbSNP: rs386794162
rs386794162
0.925 0.160 16 89935711 missense variant CG/GA mnv
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs386794162
rs386794162
0.925 0.160 16 89935711 missense variant CG/GA mnv
Congenital Fibrosis of the Extraocular Muscles
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2302898
rs2302898
16 89932386 intron variant G/A snv 0.32
CUI: C0018498
Disease: Hair Color
Hair Color
0.700 1.000 1 2018 2018
dbSNP: rs267607163
rs267607163
1.000 0.160 16 89935355 missense variant G/A snv
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 1 2010 2010
dbSNP: rs4586434
rs4586434
16 89928508 intron variant G/A snv 0.34
CUI: C0018498
Disease: Hair Color
Hair Color
0.700 1.000 1 2018 2018
dbSNP: rs587784505
rs587784505
0.882 0.160 16 89934743 missense variant G/A snv
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2016 2016
dbSNP: rs878853257
rs878853257
1.000 16 89935064 missense variant G/A snv
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
0.800 1.000 1 2010 2010
dbSNP: rs1057518686
rs1057518686
1.000 16 89935433 missense variant G/A snv
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
0.700 0
dbSNP: rs1057521924
rs1057521924
1.000 16 89935313 missense variant G/A snv
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
0.700 0
dbSNP: rs587784505
rs587784505
0.882 0.160 16 89934743 missense variant G/A snv
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
0.700 0
dbSNP: rs587784505
rs587784505
0.882 0.160 16 89934743 missense variant G/A snv
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs864321714
rs864321714
1.000 0.160 16 89933486 missense variant G/A snv
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs864321715
rs864321715
1.000 0.160 16 89933512 missense variant G/A snv
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0