Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796053216
rs796053216
SCN8A
CUI: C3281191
Disease: SCN8A-related epilepsy with encephalopathy
SCN8A-related epilepsy with encephalopathy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs796053216
rs796053216
SCN8A
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs796053216
rs796053216
SCN8A
CUI: C0014544
Disease: Epilepsy
Epilepsy 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs796053216
rs796053216
SCN8A
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		A 0.700 GeneticVariation CLINVAR