Source: CURATED

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: rs796053216
rs796053216
SCN8A
0.851 0.160 12 51790401 stop gained G/A;T snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 0
dbSNP: rs796053216
rs796053216
SCN8A
0.851 0.160 12 51790401 stop gained G/A;T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0
dbSNP: rs796053216
rs796053216
SCN8A
0.851 0.160 12 51790401 stop gained G/A;T snv
CUI: C3281191
Disease: SCN8A-related epilepsy with encephalopathy
SCN8A-related epilepsy with encephalopathy 		0.700 0
dbSNP: rs796053216
rs796053216
SCN8A
0.851 0.160 12 51790401 stop gained G/A;T snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 0