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: rs1555889162
rs1555889162
KCNB1 ; LOC105372649
0.882 0.040 20 49374931 missense variant G/A;C snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.700 1.000 2 2017 2017
dbSNP: rs1555889127
rs1555889127
KCNB1 ; LOC105372649
1.000 0.040 20 49374625 missense variant C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1555889127
rs1555889127
KCNB1 ; LOC105372649
1.000 0.040 20 49374625 missense variant C/T snv
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.700 0
dbSNP: rs1179351306
rs1179351306
KCNB1 ; LOC105372649
1.000 0.040 20 49374576 stop gained G/A;C snv 8.0E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		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: rs1555889108
rs1555889108
KCNB1 ; LOC105372649
0.925 0.040 20 49374559 missense variant A/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1555889127
rs1555889127
KCNB1 ; LOC105372649
1.000 0.040 20 49374625 missense variant C/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1555889130
rs1555889130
KCNB1 ; LOC105372649
0.882 0.040 20 49374644 missense variant G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs1555889162
rs1555889162
KCNB1 ; LOC105372649
0.882 0.040 20 49374931 missense variant G/A;C snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
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: 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: 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: rs1555889130
rs1555889130
KCNB1 ; LOC105372649
0.882 0.040 20 49374644 missense variant G/A snv
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.800 1.000 3 2014 2017
dbSNP: rs1555889162
rs1555889162
KCNB1 ; LOC105372649
0.882 0.040 20 49374931 missense variant G/A;C snv
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 1.000 3 2017 2017
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