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: rs587777162
rs587777162
0.925 0.040 20 63495972 missense variant C/T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
0.800 1.000 4 2012 2017
dbSNP: rs786205866
rs786205866
0.807 0.160 20 63495062 missense variant C/T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
0.700 1.000 4 1988 2016
dbSNP: rs886039346
rs886039346
1.000 20 63488423 missense variant G/A snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
0.700 1.000 2 2016 2017
dbSNP: rs1555883505
rs1555883505
0.827 0.160 20 63490712 missense variant G/A snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
0.700 1.000 1 2016 2016
dbSNP: rs886042041
rs886042041
1.000 20 63495056 missense variant C/T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
0.700 1.000 1 2016 2016
dbSNP: rs1405800415
rs1405800415
0.925 20 63490687 missense variant G/A snv 4.1E-06
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
0.700 0
dbSNP: rs1555883384
rs1555883384
1.000 20 63489032 missense variant C/G snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
0.700 0
dbSNP: rs1555883501
rs1555883501
1.000 20 63490645 missense variant T/A;C snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
0.700 0
dbSNP: rs1568994522
rs1568994522
1.000 20 63489041 missense variant G/A snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
0.700 0