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: rs387906684
rs387906684
0.851 0.120 2 165367327 stop gained G/A;T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.800 1.000 21 2009 2019
dbSNP: rs387906685
rs387906685
0.925 0.040 2 165380702 missense variant A/C;G snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.800 1.000 20 2009 2019
dbSNP: rs387906686
rs387906686
0.742 0.320 2 165310413 missense variant C/A;T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.800 1.000 20 2009 2019
dbSNP: rs796053126
rs796053126
0.925 0.080 2 165354267 stop gained G/A;T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.800 1.000 5 2013 2017
dbSNP: rs794727152
rs794727152
0.925 0.080 2 165342465 missense variant G/A snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.800 1.000 4 2013 2017
dbSNP: rs1057519526
rs1057519526
0.925 0.040 2 165344679 missense variant C/T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.800 0
dbSNP: rs796053124
rs796053124
0.882 0.080 2 165354232 missense variant G/T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.800 0
dbSNP: rs1235044536
rs1235044536
1.000 2 165310331 missense variant A/T snv 4.0E-06
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 1.000 20 2009 2019
dbSNP: rs1553463676
rs1553463676
1.000 2 165389291 missense variant C/T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 1.000 20 2009 2019
dbSNP: rs794727444
rs794727444
0.925 0.040 2 165389451 missense variant G/A;T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 1.000 20 2009 2019
dbSNP: rs886041259
rs886041259
1.000 2 165386971 stop gained G/A;T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 1.000 20 2009 2019
dbSNP: rs121917752
rs121917752
0.925 0.080 2 165309414 missense variant G/A snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 1.000 3 2004 2018
dbSNP: rs121917751
rs121917751
0.925 0.080 2 165344666 missense variant G/A snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 1.000 2 2004 2018
dbSNP: rs796053138
rs796053138
0.925 0.080 2 165377645 stop gained C/G;T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 1.000 2 2016 2017
dbSNP: rs1553567409
rs1553567409
0.925 0.080 2 165308794 missense variant C/T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 1.000 1 2017 2017
dbSNP: rs1553579225
rs1553579225
0.925 0.080 2 165344558 stop gained C/T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 1.000 1 2016 2016
dbSNP: rs190111194
rs190111194
0.925 0.080 2 165373330 missense variant C/T snv 4.0E-06
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 1.000 1 2016 2016
dbSNP: rs796053156
rs796053156
0.925 0.080 2 165388685 missense variant G/A snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 1.000 1 2017 2017
dbSNP: rs796053157
rs796053157
1.000 2 165388692 missense variant G/A snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 1.000 1 2013 2013
dbSNP: rs869312663
rs869312663
0.882 0.200 2 165381114 missense variant A/G snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 1.000 1 2017 2017
dbSNP: rs1057519523
rs1057519523
1.000 2 165373342 missense variant A/G snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 0
dbSNP: rs1057519524
rs1057519524
0.925 0.040 2 165386837 missense variant T/C snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 0
dbSNP: rs1057519527
rs1057519527
0.925 0.040 2 165374743 missense variant G/A snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 0
dbSNP: rs1057519528
rs1057519528
0.925 0.040 2 165310376 missense variant G/A snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 0
dbSNP: rs1060503101
rs1060503101
0.925 0.080 2 165388782 missense variant C/T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 0