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: rs796053228
rs796053228
SCN8A
0.882 0.160 12 51807100 missense variant C/G;T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.720 1.000 0 2019 2020
dbSNP: rs796053228
rs796053228
SCN8A
0.882 0.160 12 51807100 missense variant C/G;T snv
CUI: C3281191
Disease: SCN8A-related epilepsy with encephalopathy
SCN8A-related epilepsy with encephalopathy 		0.700 1.000 3 2014 2015
dbSNP: rs796053228
rs796053228
SCN8A
0.882 0.160 12 51807100 missense variant C/G;T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 0