TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
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: rs267607103
rs267607103 		1.000 0.040 16 2496587 missense variant G/A;C snv 1.3E-04; 4.1E-06
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		Nervous System Diseases 0.810 1.000 2 2010 2010
dbSNP: rs201257588
rs201257588 		0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.800 1.000 2 2014 2014
dbSNP: rs267607104
rs267607104 		1.000 0.040 16 2496899 missense variant T/C snv
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		Nervous System Diseases 0.800 1.000 2 2010 2010
dbSNP: rs397514713
rs397514713 		1.000 16 2496834 missense variant T/C snv
CUI: C3809173
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		0.800 1.000 2 2013 2016
dbSNP: rs398122965
rs398122965 		0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.800 1.000 2 2014 2014
dbSNP: rs398122966
rs398122966 		0.882 0.280 16 2496266 missense variant C/T snv 8.0E-06
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.800 1.000 2 2014 2014
dbSNP: rs483352866
rs483352866 		0.882 0.240 16 2496681 missense variant C/G;T snv 8.0E-06
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.800 1.000 2 2014 2014
dbSNP: rs747821285
rs747821285 		0.882 0.280 16 2496476 missense variant G/A snv 4.1E-06
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.800 1.000 2 2014 2014
dbSNP: rs587777147
rs587777147 		1.000 16 2496356 missense variant G/T snv 4.0E-06
CUI: C2829265
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 86
DEAFNESS, AUTOSOMAL RECESSIVE 86 		0.800 1.000 1 2014 2014
dbSNP: rs267607105
rs267607105 		1.000 0.040 16 2500822 missense variant C/T snv 8.3E-06 2.1E-05
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		Nervous System Diseases 0.710 1.000 2 2010 2010
dbSNP: rs796053403
rs796053403 		16 2496622 frameshift variant C/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 11 2014 2017
dbSNP: rs376712059
rs376712059 		0.827 0.280 16 2496605 stop gained G/A;C;T snv 6.9E-05; 8.1E-06; 4.1E-06
CUI: C0795934
Disease: Digitorenocerebral Syndrome
Digitorenocerebral Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 1.000 3 2015 2017
dbSNP: rs376712059
rs376712059 		0.827 0.280 16 2496605 stop gained G/A;C;T snv 6.9E-05; 8.1E-06; 4.1E-06
CUI: C3892048
Disease: DEAFNESS, AUTOSOMAL DOMINANT 65
DEAFNESS, AUTOSOMAL DOMINANT 65 		0.700 1.000 3 2015 2017
dbSNP: rs376712059
rs376712059 		0.827 0.280 16 2496605 stop gained G/A;C;T snv 6.9E-05; 8.1E-06; 4.1E-06
CUI: C0917800
Disease: Epilepsy, Myoclonic, Infantile
Epilepsy, Myoclonic, Infantile 		Nervous System Diseases 0.700 1.000 3 2015 2017
dbSNP: rs376712059
rs376712059 		0.827 0.280 16 2496605 stop gained G/A;C;T snv 6.9E-05; 8.1E-06; 4.1E-06
CUI: C3809173
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 		0.700 1.000 3 2015 2017
dbSNP: rs376712059
rs376712059 		0.827 0.280 16 2496605 stop gained G/A;C;T snv 6.9E-05; 8.1E-06; 4.1E-06
CUI: C2829265
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 86
DEAFNESS, AUTOSOMAL RECESSIVE 86 		0.700 1.000 3 2015 2017
dbSNP: rs201257588
rs201257588 		0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 2 2014 2014
dbSNP: rs201257588
rs201257588 		0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		Pathological Conditions, Signs and Symptoms 0.700 1.000 2 2014 2014
dbSNP: rs201257588
rs201257588 		0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		0.700 1.000 2 2014 2014
dbSNP: rs201257588
rs201257588 		0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2014 2014
dbSNP: rs201257588
rs201257588 		0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 2 2014 2014
dbSNP: rs201257588
rs201257588 		0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2014 2014
dbSNP: rs201257588
rs201257588 		0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2014 2014
dbSNP: rs201257588
rs201257588 		0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05
CUI: C0235942
Disease: Abnormality of the skull
Abnormality of the skull 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases 0.700 1.000 2 2014 2014
dbSNP: rs398122965
rs398122965 		0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		0.700 1.000 2 2014 2014