Source: CLINVAR

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: rs781663444
rs781663444
KCNB1 ; LOC105372649
1.000 20 49373813 stop gained G/A;T snv 4.0E-06
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 0
dbSNP: rs781663444
rs781663444
KCNB1 ; LOC105372649
1.000 20 49373813 stop gained G/A;T snv 4.0E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1569016820
rs1569016820
KCNB1 ; LOC105372649
20 49374071 stop gained C/A snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1064794764
rs1064794764
KCNB1 ; LOC105372649
1.000 20 49374263 stop gained G/A snv
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		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: rs1569017025
rs1569017025
KCNB1 ; LOC105372649
20 49374334 missense variant A/G snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		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: rs959316981
rs959316981
KCNB1 ; LOC105372649
0.925 0.040 20 49374377 missense variant C/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs959316981
rs959316981
KCNB1 ; LOC105372649
0.925 0.040 20 49374377 missense variant C/T snv
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		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: rs1060499592
rs1060499592
KCNB1 ; LOC105372649
1.000 20 49374407 missense variant G/T snv
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 0
dbSNP: rs1555889090
rs1555889090
KCNB1 ; LOC105372649
1.000 0.040 20 49374416 missense variant C/G;T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1569017114
rs1569017114
KCNB1 ; LOC105372649
1.000 20 49374418 missense variant C/T snv
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 1.000 1 2016 2016
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: rs587777850
rs587777850
KCNB1 ; LOC105372649
1.000 20 49374425 missense variant C/T snv
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.800 1.000 0 2014 2015
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: rs587777849
rs587777849
KCNB1 ; LOC105372649
1.000 20 49374439 missense variant G/A snv
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.800 1.000 0 2014 2015
dbSNP: rs1569017160
rs1569017160
KCNB1 ; LOC105372649
20 49374445 missense variant G/A;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		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: rs1555889103
rs1555889103
KCNB1 ; LOC105372649
1.000 20 49374472 frameshift variant C/- del
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 1.000 1 2014 2014
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: rs587777848
rs587777848
KCNB1 ; LOC105372649
0.882 0.040 20 49374519 missense variant G/C;T snv
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.800 1.000 1 2014 2015
dbSNP: rs587777848
rs587777848
KCNB1 ; LOC105372649
0.882 0.040 20 49374519 missense variant G/C;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		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