ITPA, inosine triphosphatase, 3704

N. diseases: 77; N. variants: 13
Disease: Inosine Triphosphatase Deficiency ×
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: rs1127354
rs1127354 		0.667 0.400 20 3213196 missense variant C/A;G snv 7.5E-02
CUI: C0342800
Disease: Inosine Triphosphatase Deficiency
Inosine Triphosphatase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1227149616
rs1227149616 		1.000 0.080 20 3218525 stop gained C/T snv 4.0E-06
CUI: C0342800
Disease: Inosine Triphosphatase Deficiency
Inosine Triphosphatase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1381781375
rs1381781375 		1.000 0.080 20 3215286 frameshift variant G/- delins
CUI: C0342800
Disease: Inosine Triphosphatase Deficiency
Inosine Triphosphatase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1568509937
rs1568509937 		1.000 0.080 20 3213171 frameshift variant -/G delins
CUI: C0342800
Disease: Inosine Triphosphatase Deficiency
Inosine Triphosphatase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0