TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
Disease: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp ×
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: rs564477999
rs564477999 		1.000 0.080 16 2500464 missense variant C/T snv 2.7E-05 2.8E-05
CUI: C1842531
Disease: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs761918906
rs761918906 		1.000 0.080 16 2496377 inframe deletion ATCGTGGGCAAG/- delins 1.2E-04 2.8E-05
CUI: C1842531
Disease: Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0