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: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		0.700 1.000 3 2017 2017
dbSNP: rs1555889162
rs1555889162
KCNB1 ; LOC105372649
0.882 0.040 20 49374931 missense variant G/A;C snv
CUI: C4022901
Disease: Low CSF 5-methyltetrahydrofolate
Low CSF 5-methyltetrahydrofolate 		0.700 1.000 2 2017 2017
dbSNP: rs1555889162
rs1555889162
KCNB1 ; LOC105372649
0.882 0.040 20 49374931 missense variant G/A;C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 2 2017 2017
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: rs1555889162
rs1555889162
KCNB1 ; LOC105372649
0.882 0.040 20 49374931 missense variant G/A;C snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 2 2017 2017
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