Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796053156
rs796053156
SCN2A
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		A 0.700 CausalMutation CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373

2017