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: 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: 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: 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: 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: 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: rs267607164
rs267607164
0.925 0.160 16 89935700 missense variant G/A;C 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: 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: 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
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
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