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: rs118192235
rs118192235
KCNQ2 ; LOC105372724
0.882 0.080 20 63413471 missense variant C/A;T snv
CUI: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
EPILEPSY, BENIGN NEONATAL, 2 		0.700 0
dbSNP: rs118192235
rs118192235
KCNQ2 ; LOC105372724
0.882 0.080 20 63413471 missense variant C/A;T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs118192235
rs118192235
KCNQ2 ; LOC105372724
0.882 0.080 20 63413471 missense variant C/A;T snv
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		0.700 0