Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312663
rs869312663
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		G 0.700 GeneticVariation CLINVAR Genomic diagnosis for children with intellectual disability and/or developmental delay. 28554332 2017
dbSNP: rs869312663
rs869312663
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C3150987
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		G 0.700 CausalMutation CLINVAR