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: 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: 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: 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: C0376175
Disease: Bell Palsy
Bell Palsy 		Infections; Nervous System Diseases; Stomatognathic Diseases 0.010 1.000 1 2018 2018
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: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs267607165
rs267607165 		0.708 0.520 16 89935679 missense variant G/A;C snv
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases 0.010 1.000 1 2018 2018
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: 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: 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: 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: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
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: 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: C0234435
Disease: Syncope, Tussive
Syncope, Tussive 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2018 2018
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: 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: 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: rs1805009
rs1805009 		0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.070 0.857 7 2001 2018
dbSNP: rs1805009
rs1805009 		0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2000 2018
dbSNP: rs1805009
rs1805009 		0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2002 2008