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: rs794726754
rs794726754
SCN1A ; SCN1A-AS1 ; LOC102724058
0.925 0.040 2 165992262 frameshift variant ACAA/- delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.700 1.000 1 2015 2015
dbSNP: rs794726754
rs794726754
SCN1A ; SCN1A-AS1 ; LOC102724058
0.925 0.040 2 165992262 frameshift variant ACAA/- delins
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.700 0