ITPA, inosine triphosphatase, 3704

N. diseases: 77; N. variants: 13
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 ×
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: rs746930990
rs746930990 		1.000 20 3223409 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4225256
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 		0.800 1.000 1 2015 2015
dbSNP: rs1407446171
rs1407446171 		1.000 20 3218578 frameshift variant -/TCAGCACC delins 3.5E-05
CUI: C4225256
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 		0.700 0
dbSNP: rs200086262
rs200086262 		1.000 20 3221881 stop gained G/A snv 5.6E-05 1.4E-05
CUI: C4225256
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 		0.700 0