rs1553567409, SCN2A

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
0.700 GeneticVariation CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373 2017
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
0.700 GeneticVariation CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373 2017
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
0.700 CausalMutation CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373 2017