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: rs121918738
rs121918738
1.000 0.040 2 166013820 missense variant G/A;T snv 1.6E-05
Early Infantile Epileptic Encephalopathy 6
Nervous System Diseases 0.800 1.000 22 2003 2017