Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1135401736
rs1135401736
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C4479236
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
T 0.800 CausalMutation CLINVAR
dbSNP: rs1135401736
rs1135401736
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
CUI: C4479236
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
0.800 GeneticVariation UNIPROT