rs879255652, SCN8A

N. diseases: 7
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SEIZURES, BENIGN FAMILIAL INFANTILE, 5
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
0.800 GeneticVariation UNIPROT Autosomal dominant SCN8A mutation with an unusually mild phenotype. 27210545 2016
SEIZURES, BENIGN FAMILIAL INFANTILE, 5
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
0.800 GeneticVariation UNIPROT Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. 26677014 2016
SEIZURES, BENIGN FAMILIAL INFANTILE, 5
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
0.800 CausalMutation CLINVAR