Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553517274
rs1553517274
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C4693699
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 		0.800 GeneticVariation UNIPROT Mutations in SCN3A cause early infantile epileptic encephalopathy. 29466837 2018
dbSNP: rs1553517274
rs1553517274
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C4693699
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 		G 0.800 CausalMutation CLINVAR