Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518801
rs1057518801
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C4693699
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62
G 0.800 CausalMutation CLINVAR
dbSNP: rs1057518801
rs1057518801
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
CUI: C4693699
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62
0.800 GeneticVariation UNIPROT