Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 ×
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: rs121917981
rs121917981 		0.925 0.040 2 165991510 missense variant A/C;G snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 1 2013 2013
dbSNP: rs1553519902
rs1553519902 		1.000 2 165991548 inframe deletion AGT/- delins
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 5 2002 2017
dbSNP: rs121918793
rs121918793 		0.882 0.040 2 165991549 missense variant G/A snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 7 2002 2018
dbSNP: rs1559101585
rs1559101585 		1.000 2 165991779 frameshift variant -/A ins
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 1 2016 2016
dbSNP: rs121917951
rs121917951 		0.925 0.040 2 165991957 missense variant G/A;T snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 3 2006 2015
dbSNP: rs794726763
rs794726763 		0.925 0.040 2 165992053 missense variant C/G;T snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 5 2009 2017
dbSNP: rs1559105301
rs1559105301 		1.000 2 165992294 frameshift variant AG/- delins
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 1 2016 2016
dbSNP: rs1553520439
rs1553520439 		1.000 2 165992311 missense variant C/G snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 2 2009 2015
dbSNP: rs121917919
rs121917919 		0.925 0.040 2 165994236 missense variant A/G snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 2 2007 2015
dbSNP: rs1559110846
rs1559110846 		1.000 2 165994306 frameshift variant GTCAT/- del
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 0
dbSNP: rs1559114202
rs1559114202 		1.000 2 165995974 splice donor variant TGTATTTTTCCCCCATATCATTTGATACTTCTTACTCCTGGTCGAGGTATAGGCTTTT/- delins
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 0
dbSNP: rs1559114303
rs1559114303 		1.000 2 165996008 splice region variant C/G snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 1 2015 2015
dbSNP: rs121918764
rs121918764 		0.925 0.040 2 165996053 stop gained A/C;G snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 0
dbSNP: rs1553521567
rs1553521567 		1.000 2 165996118 splice acceptor variant G/A snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 2 2007 2009
dbSNP: rs1060502183
rs1060502183 		1.000 2 166002520 frameshift variant T/- delins
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 0
dbSNP: rs1553525313
rs1553525313 		1.000 2 166002704 missense variant A/G snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 2 2009 2015
dbSNP: rs1559128532
rs1559128532 		1.000 2 166002720 splice acceptor variant TTGCTCCTAAAAGGGCATTCACAACCACCTAATACACAAATGGAA/- delins
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 0
dbSNP: rs1559140110
rs1559140110 		1.000 2 166009717 splice donor variant A/G snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 3 2007 2011
dbSNP: rs1559140306
rs1559140306 		1.000 2 166009749 frameshift variant -/A delins
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 0
dbSNP: rs1559140855
rs1559140855 		1.000 2 166009842 splice acceptor variant C/A snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 2 2007 2009
dbSNP: rs794726816
rs794726816 		0.925 0.040 2 166009843 splice acceptor variant T/C snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 2 2007 2009
dbSNP: rs1043031572
rs1043031572 		1.000 2 166012205 stop gained G/A;C snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 1 2009 2009
dbSNP: rs794726744
rs794726744 		0.925 0.040 2 166013743 splice donor variant C/A;T snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 6 2003 2014
dbSNP: rs1559149128
rs1559149128 		0.925 0.040 2 166013838 stop gained C/T snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 1 2002 2002
dbSNP: rs1559193050
rs1559193050 		1.000 2 166036133 frameshift variant CA/- delins
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 0