Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 ×
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: rs121917984
rs121917984 		0.790 0.080 2 166052869 missense variant G/A;C snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.020 1.000 2 2019 2020
dbSNP: rs121918811
rs121918811 		0.882 0.080 2 165992306 missense variant G/A snv 7.0E-06
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.020 1.000 2 2013 2018
dbSNP: rs794726759
rs794726759 		0.882 0.040 2 165992342 stop gained G/A snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.020 1.000 2 2013 2018
dbSNP: rs121917918
rs121917918 		0.851 0.040 2 166058651 missense variant C/A;T snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121917921
rs121917921 		0.882 0.040 2 165991927 missense variant G/A snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121917935
rs121917935 		0.851 0.040 2 166054660 missense variant C/A;T snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs121917971
rs121917971 		0.851 0.080 2 166037885 missense variant C/G;T snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121917993
rs121917993 		0.851 0.040 2 165994212 missense variant G/A snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121918622
rs121918622 		0.790 0.080 2 165992332 missense variant C/A;T snv 4.0E-06
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121918624
rs121918624 		0.827 0.080 2 166052882 stop gained G/A snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs121918775
rs121918775 		0.827 0.080 2 166037886 missense variant G/A;T snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121918792
rs121918792 		0.882 0.040 2 165992255 missense variant C/G snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121918799
rs121918799 		0.752 0.120 2 166015636 missense variant G/C snv 1.7E-03 1.6E-03
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121918803
rs121918803 		0.851 0.040 2 166009745 missense variant C/G snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1490209867
rs1490209867 		0.925 0.040 2 165992377 missense variant G/A snv 4.0E-06
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs398123588
rs398123588 		0.827 0.080 2 166039436 missense variant C/T snv 8.0E-06
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs398123593
rs398123593 		0.882 0.040 2 166002537 stop gained G/A snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs727504136
rs727504136 		0.882 0.040 2 166012255 stop gained G/A snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs794726752
rs794726752 		0.882 0.040 2 165996021 stop gained G/A snv
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 		Nervous System Diseases 0.010 1.000 1 2018 2018