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 0.040 9 128632280 protein altering variant -/GCATGC delins
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.700 0