Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587780455
rs587780455
SCN8A
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
SEIZURES, BENIGN FAMILIAL INFANTILE, 5 		G 0.800 CausalMutation CLINVAR

dbSNP: rs879255652
rs879255652
SCN8A
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
SEIZURES, BENIGN FAMILIAL INFANTILE, 5 		A 0.800 CausalMutation CLINVAR

dbSNP: rs1064794727
rs1064794727
SCN8A
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
SEIZURES, BENIGN FAMILIAL INFANTILE, 5 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs797045013
rs797045013
SCN8A
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
SEIZURES, BENIGN FAMILIAL INFANTILE, 5 		T 0.700 GeneticVariation CLINVAR A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. 24874546

2014
dbSNP: rs886044328
rs886044328
SCN8A
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
SEIZURES, BENIGN FAMILIAL INFANTILE, 5 		A 0.700 GeneticVariation CLINVAR