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: rs1057519533
rs1057519533
1.000 0.040 2 165994184 missense variant T/A snv
Early Infantile Epileptic Encephalopathy 6
Nervous System Diseases 0.800 1.000 1 2010 2010