Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1568658507
rs1568658507
KCNB1
1.000 0.040 20 49482353 missense variant T/C snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1569017015
rs1569017015
KCNB1 ; LOC105372649
1.000 0.040 20 49374312 missense variant G/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1569017045
rs1569017045
KCNB1 ; LOC105372649
1.000 0.040 20 49374359 missense variant C/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1569017073
rs1569017073
KCNB1 ; LOC105372649
1.000 0.040 20 49374380 missense variant C/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1569017123
rs1569017123
KCNB1 ; LOC105372649
1.000 0.040 20 49374421 missense variant T/C snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1569017143
rs1569017143
KCNB1 ; LOC105372649
1.000 0.040 20 49374428 missense variant C/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1569017148
rs1569017148
KCNB1 ; LOC105372649
1.000 0.040 20 49374430 missense variant G/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1569017174
rs1569017174
KCNB1 ; LOC105372649
1.000 0.040 20 49374455 missense variant A/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1569017205
rs1569017205
KCNB1 ; LOC105372649
1.000 0.040 20 49374515 missense variant C/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1569017257
rs1569017257
KCNB1 ; LOC105372649
1.000 0.040 20 49374592 missense variant G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1569017337
rs1569017337
KCNB1 ; LOC105372649
1.000 0.040 20 49374703 frameshift variant A/- del
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1569219844
rs1569219844
CDKL5
1.000 0.040 X 18604845 frameshift variant AG/- del
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs267608501
rs267608501
CDKL5
0.882 0.160 X 18587986 missense variant C/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs375659415
rs375659415
USP19
1.000 0.040 3 49115844 missense variant C/A;T snv 8.1E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs387906686
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs587776508
rs587776508
CDK2AP1 ; C12orf65
0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs587777848
rs587777848
KCNB1 ; LOC105372649
0.882 0.040 20 49374519 missense variant G/C;T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs747824231
rs747824231
VARS1
0.882 0.040 6 31782361 missense variant C/G;T snv 4.1E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs759766243
rs759766243
WWOX
1.000 0.040 16 78109788 stop gained C/A;T snv 4.0E-06; 4.8E-05
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs763777257
rs763777257
VARS1
0.882 0.040 6 31785269 stop gained G/A snv 4.0E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs786204967
rs786204967
CDKL5
1.000 0.040 X 18604169 frameshift variant AG/- delins
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs794726754
rs794726754
SCN1A ; SCN1A-AS1 ; LOC102724058
0.925 0.040 2 165992262 frameshift variant ACAA/- delins
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs794727444
rs794727444
SCN2A
0.925 0.040 2 165389451 missense variant G/A;T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs796052957
rs796052957
SCN1A ; SCN1A-AS1
0.925 0.040 2 166054735 missense variant A/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs796053083
rs796053083
SCN1A ; SCN1A-AS1 ; LOC102724058
1.000 0.040 2 165994177 frameshift variant AA/-;A delins
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0