USP19, ubiquitin specific peptidase 19, 10869

N. diseases: 16; N. variants: 5
Disease: Epileptic encephalopathy ×
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: rs1057519452
rs1057519452 		1.000 0.040 3 49115756 missense variant C/A;T snv 4.0E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs375659415
rs375659415 		1.000 0.040 3 49115844 missense variant C/A;T snv 8.1E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0