Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918626
rs121918626
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C3502809
Disease:
Generalized Epilepsy with Febrile Seizures Plus
0.010 GeneticVariation BEFREE The second pair is a GEFS+ patient line with the K1270T mutation, and the corrected patient line. 31786370 2020