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: rs267607162
rs267607162 		1.000 0.160 16 89935235 missense variant C/T snv
CUI: C2748801
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
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: rs267607163
rs267607163 		1.000 0.160 16 89935355 missense variant G/A snv
CUI: C2748801
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
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: rs267607164
rs267607164 		0.925 0.160 16 89935700 missense variant G/A;C snv
CUI: C2748801
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
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: rs267607165
rs267607165 		0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C2748801
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
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
CUI: C2748801
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
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: rs878853256
rs878853256 		1.000 16 89935418 missense variant A/G snv
CUI: C3808397
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		0.800 1.000 1 2010 2010
dbSNP: rs878853257
rs878853257 		1.000 16 89935064 missense variant G/A snv
CUI: C3808397
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		0.800 1.000 1 2010 2010
dbSNP: rs878853258
rs878853258 		1.000 16 89935356 missense variant C/T snv
CUI: C3808397
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		0.800 1.000 1 2010 2010
dbSNP: rs747480526
rs747480526 		1.000 16 89934984 missense variant C/T snv 4.0E-06
CUI: C3808397
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		0.800 0
dbSNP: rs1555625571
rs1555625571 		16 89934974 missense variant G/C snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 10 2010 2016
dbSNP: rs1555625571
rs1555625571 		16 89934974 missense variant G/C snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 10 2010 2016
dbSNP: rs369542041
rs369542041 		1.000 16 89920123 missense variant T/C snv 5.6E-05 3.5E-05
CUI: C2751295
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 		0.700 1.000 2 2007 2009
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
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
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
CUI: C3808397
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		0.700 1.000 1 2018 2018
dbSNP: rs1805009
rs1805009 		0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03
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: rs1805009
rs1805009 		0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 1.000 1 2015 2015
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: 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: rs1057518686
rs1057518686 		1.000 16 89935433 missense variant G/A snv
CUI: C3808397
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		0.700 0
dbSNP: rs1057521924
rs1057521924 		1.000 16 89935313 missense variant G/A snv
CUI: C3808397
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		0.700 0
dbSNP: rs1805009
rs1805009 		0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03
CUI: C4016260
Disease: SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN
SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN 		0.700 0
dbSNP: rs267607165
rs267607165 		0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C3808397
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
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
CUI: C3808397
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
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
CUI: C2748801
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
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