Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917751
rs121917751
SCN2A
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		A 0.700 CausalMutation CLINVAR Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort. 29215089

2018
dbSNP: rs121917751
rs121917751
SCN2A
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		A 0.700 CausalMutation CLINVAR Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. 15048894

2004
dbSNP: rs121917751
rs121917751
SCN2A
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		A 0.700 GeneticVariation CLINVAR