USP19, ubiquitin specific peptidase 19, 10869

N. diseases: 16; N. variants: 5
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: rs1553776921
rs1553776921 		0.925 0.240 3 49122170 frameshift variant -/C delins
CUI: C3280113
Disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES 		0.700 0
dbSNP: rs1553776921
rs1553776921 		0.925 0.240 3 49122170 frameshift variant -/C delins
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1560063136
rs1560063136 		1.000 0.240 3 49121434 frameshift variant -/T delins
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; 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
dbSNP: rs769399002
rs769399002 		1.000 3 49122063 frameshift variant G/- del 1.4E-05
CUI: C3280113
Disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES 		0.700 0