TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
Disease: Seizures ×
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: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System 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: 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: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2014 2014
dbSNP: rs398122967
rs398122967 		0.827 0.280 16 2498262 frameshift variant T/- del 7.4E-05 4.9E-05
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2014 2014
dbSNP: rs398122968
rs398122968 		0.882 0.280 16 2499425 splice region variant G/A snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2014 2014
dbSNP: rs747821285
rs747821285 		0.882 0.280 16 2496476 missense variant G/A snv 4.1E-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: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2014 2014
dbSNP: rs797044548
rs797044548 		0.882 0.280 16 2498253 missense variant G/T snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2014 2014