TRAK1, trafficking kinesin protein 1, 22906

N. diseases: 66; N. variants: 10
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 ×
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: rs1559390743
rs1559390743 		1.000 3 42209780 frameshift variant -/C delins
CUI: C4748688
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 		0.700 0
dbSNP: rs1559877920
rs1559877920 		1.000 3 42176812 splice acceptor variant A/C;G snv
CUI: C4748688
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 		0.700 0
dbSNP: rs770281448
rs770281448 		1.000 3 42194814 missense variant T/C snv 3.2E-05 7.0E-06
CUI: C4748688
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 		0.700 0