Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796053157
rs796053157
SCN2A
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		A 0.700 CausalMutation CLINVAR Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. 23935176

2013