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: 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: rs1805009
rs1805009 		0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03
CUI: C1332965
Disease: Congenital Mesoblastic Nephroma
Congenital Mesoblastic Nephroma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
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
CUI: C1302995
Disease: Congenital Fibrosis of the Extraocular Muscles
Congenital Fibrosis of the Extraocular Muscles 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs267607165
rs267607165 		0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C0221060
Disease: Mobius Syndrome
Mobius Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases 0.020 1.000 2 2013 2018
dbSNP: rs267607165
rs267607165 		0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.020 1.000 2 2013 2015
dbSNP: rs267607165
rs267607165 		0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C0271682
Disease: Mixed sensory-motor polyneuropathy
Mixed sensory-motor polyneuropathy 		Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs267607165
rs267607165 		0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C0042928
Disease: Vocal Cord Paralysis
Vocal Cord Paralysis 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs267607165
rs267607165 		0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C0042963
Disease: Vomiting
Vomiting 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2013 2013
dbSNP: rs267607165
rs267607165 		0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2013 2013
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: 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: rs267607164
rs267607164 		0.925 0.160 16 89935700 missense variant G/A;C snv
CUI: C0271682
Disease: Mixed sensory-motor polyneuropathy
Mixed sensory-motor polyneuropathy 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs267607165
rs267607165 		0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C1302995
Disease: Congenital Fibrosis of the Extraocular Muscles
Congenital Fibrosis of the Extraocular Muscles 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs267607165
rs267607165 		0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2015 2015
dbSNP: rs267607165
rs267607165 		0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs267607165
rs267607165 		0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs267607165
rs267607165 		0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C0427055
Disease: Facial Paresis
Facial Paresis 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases 0.010 1.000 1 2015 2015
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: 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: 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