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: rs1805009
rs1805009 		0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1805009
rs1805009 		0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03
CUI: C1849452
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder) 		0.010 1.000 1 2008 2008
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: 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
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: 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: 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: 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: 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