Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET ×
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: rs864309537
rs864309537 		1.000 15 92953496 missense variant T/C snv
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.800 1.000 2 2013 2014
dbSNP: rs864309540
rs864309540 		1.000 15 92972380 missense variant T/C snv
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.800 1.000 2 2013 2014
dbSNP: rs797044912
rs797044912 		1.000 15 93020140 stop gained C/A;T snv 4.0E-06
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 1.000 2 2016 2017
dbSNP: rs398122998
rs398122998 		1.000 15 93020076 stop gained G/A snv
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 1.000 1 2013 2013
dbSNP: rs398123000
rs398123000 		1.000 15 92948970 stop gained C/T snv
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 1.000 1 2013 2013
dbSNP: rs1057518128
rs1057518128 		1.000 15 92927289 stop gained C/T snv
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs1060503517
rs1060503517 		1.000 15 92942894 frameshift variant TGGTG/- delins
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs1131691515
rs1131691515 		1.000 15 92967419 missense variant C/A;T snv 4.0E-06
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs146691368
rs146691368 		1.000 15 92972337 stop gained C/A;T snv 4.0E-06
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs1555437851
rs1555437851 		1.000 15 92929038 synonymous variant C/T snv
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs1555439036
rs1555439036 		1.000 15 92939719 splice donor variant G/C snv
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs1555439714
rs1555439714 		1.000 15 92944415 stop gained G/A snv
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs1555439719
rs1555439719 		1.000 15 92944443 stop gained G/T snv
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs1555440885
rs1555440885 		1.000 15 92956532 stop gained T/G snv
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs1555442886
rs1555442886 		1.000 15 92979171 frameshift variant -/A delins
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs1555442889
rs1555442889 		1.000 15 92979192 stop gained GCCAAAAAGAAGATGGT/TG delins
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs1567133726
rs1567133726 		1.000 15 92939654 stop gained G/T snv
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs1567135138
rs1567135138 		1.000 15 92941868 stop gained G/T snv
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs1567136357
rs1567136357 		1.000 15 92944495 frameshift variant ATAG/- delins
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs1567138270
rs1567138270 		1.000 15 92948956 stop gained TG/AAGTCTGAA delins
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs1567149962
rs1567149962 		1.000 15 92978363 missense variant A/G snv
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs1567159145
rs1567159145 		1.000 15 93000609 stop gained C/G snv
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs397514739
rs397514739 		1.000 15 92955512 splice donor variant G/- delins
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs397514740
rs397514740 		1.000 15 92927310 stop gained C/A;T snv
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs398122999
rs398122999 		1.000 15 92956457 splice acceptor variant A/C snv
CUI: C3809278
Disease: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET 		0.700 0