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: rs796053335
rs796053335
1.000 0.036 9 128632292 inframe insertion C/CGCATGC in-del
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 1 2015 2015