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: rs118192211
rs118192211
KCNQ2
0.790 0.080 20 63439644 missense variant G/A;C snv
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		0.800 1.000 13 2003 2017
dbSNP: rs118192211
rs118192211
KCNQ2
0.790 0.080 20 63439644 missense variant G/A;C snv
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 1.000 1 2007 2007
dbSNP: rs118192211
rs118192211
KCNQ2
0.790 0.080 20 63439644 missense variant G/A;C snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs118192211
rs118192211
KCNQ2
0.790 0.080 20 63439644 missense variant G/A;C snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 0