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: rs766910280
rs766910280
0.882 0.040 19 35033556 missense variant C/T snv 1.2E-05 4.2E-05
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
Nervous System Diseases 0.010 1.000 1 2019 2019