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: rs121917937
rs121917937 		0.925 0.040 2 166052866 missense variant A/C snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 7 2003 2015
dbSNP: rs121918775
rs121918775 		0.827 0.080 2 166037886 missense variant G/A;T snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 7 2004 2016
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: 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: 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: 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: 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: rs121917964
rs121917964 		0.851 0.080 2 166073371 missense variant T/C snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 3 2007 2012
dbSNP: rs148442069
rs148442069 		0.925 0.040 2 166058574 missense variant G/A;C snv 6.8E-05 1.1E-04
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 3 2009 2015
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: rs1559199628
rs1559199628 		1.000 2 166037922 missense variant T/C snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 3 2009 2015
dbSNP: rs398123585
rs398123585 		0.851 0.080 2 166043875 stop gained G/A;T snv 4.0E-06
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 3 1991 2006
dbSNP: rs794726799
rs794726799 		0.925 0.040 2 166047668 stop gained G/A snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 3 2006 2016
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: 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: 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: 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: rs1553540503
rs1553540503 		1.000 2 166036530 missense variant C/T snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 2 2003 2005
dbSNP: rs1553549471
rs1553549471 		1.000 2 166051741 stop gained C/G;T snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 2 2009 2015
dbSNP: rs1553549834
rs1553549834 		1.000 2 166051931 missense variant A/C snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 2 2009 2015
dbSNP: rs1553560676
rs1553560676 		1.000 2 166073353 splice donor variant CTCACT/GGCA delins
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 2 2007 2009
dbSNP: rs1553560760
rs1553560760 		1.000 2 166073439 inframe deletion AGGTTCTTTCCA/- delins
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 2 2009 2015
dbSNP: rs1553561016
rs1553561016 		1.000 2 166073619 start lost C/T snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 2 2009 2011
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: rs1559238432
rs1559238432 		1.000 2 166051886 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