Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs886039903
rs886039903
0.807 0.200 3 192335434 missense variant C/T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47
0.800 0
dbSNP: rs1553798675
rs1553798675
0.925 0.080 3 192335441 missense variant C/T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47
0.700 1.000 1 2016 2016