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: 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: 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: 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: rs398122966
rs398122966 		0.882 0.280 16 2496266 missense variant C/T snv 8.0E-06
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: 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: rs398122966
rs398122966 		0.882 0.280 16 2496266 missense variant C/T snv 8.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 2 2014 2014
dbSNP: rs398122966
rs398122966 		0.882 0.280 16 2496266 missense variant C/T snv 8.0E-06
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		0.700 1.000 2 2014 2014
dbSNP: rs398122966
rs398122966 		0.882 0.280 16 2496266 missense variant C/T snv 8.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2014 2014
dbSNP: rs398122966
rs398122966 		0.882 0.280 16 2496266 missense variant C/T snv 8.0E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 2 2014 2014
dbSNP: rs398122966
rs398122966 		0.882 0.280 16 2496266 missense variant C/T snv 8.0E-06
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2014 2014
dbSNP: rs398122966
rs398122966 		0.882 0.280 16 2496266 missense variant C/T snv 8.0E-06
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: rs398122966
rs398122966 		0.882 0.280 16 2496266 missense variant C/T snv 8.0E-06
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		Pathological Conditions, Signs and Symptoms 0.700 1.000 2 2014 2014
dbSNP: rs760474458
rs760474458 		0.882 0.280 16 2496267 missense variant G/A;C;T snv 4.0E-06; 2.0E-05; 4.0E-06
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: rs760474458
rs760474458 		0.882 0.280 16 2496267 missense variant G/A;C;T snv 4.0E-06; 2.0E-05; 4.0E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 1.000 2 2014 2014
dbSNP: rs760474458
rs760474458 		0.882 0.280 16 2496267 missense variant G/A;C;T snv 4.0E-06; 2.0E-05; 4.0E-06
CUI: C3550704
Disease: Abnormality of digit
Abnormality of digit 		0.700 1.000 2 2014 2014
dbSNP: rs760474458
rs760474458 		0.882 0.280 16 2496267 missense variant G/A;C;T snv 4.0E-06; 2.0E-05; 4.0E-06
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 2 2014 2014
dbSNP: rs760474458
rs760474458 		0.882 0.280 16 2496267 missense variant G/A;C;T snv 4.0E-06; 2.0E-05; 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2014 2014
dbSNP: rs760474458
rs760474458 		0.882 0.280 16 2496267 missense variant G/A;C;T snv 4.0E-06; 2.0E-05; 4.0E-06
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		Pathological Conditions, Signs and Symptoms 0.700 1.000 2 2014 2014
dbSNP: rs760474458
rs760474458 		0.882 0.280 16 2496267 missense variant G/A;C;T snv 4.0E-06; 2.0E-05; 4.0E-06
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