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: rs74315392
rs74315392
KCNQ2
0.851 0.080 20 63442482 stop gained G/A;C;T snv
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		0.800 1.000 0 2003 2017
dbSNP: rs74315392
rs74315392
KCNQ2
0.851 0.080 20 63442482 stop gained G/A;C;T snv
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 1.000 1 2006 2006
dbSNP: rs74315392
rs74315392
KCNQ2
0.851 0.080 20 63442482 stop gained G/A;C;T snv
CUI: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
EPILEPSY, BENIGN NEONATAL, 2 		0.700 1.000 1 2003 2003