Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17183814
rs17183814
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0009952
Disease:
Febrile Convulsions
0.010 GeneticVariation BEFREE We attempted to identify the R188W mutation and confirm association of the R19K polymorphism in 93 Japanese patients with FS, 35 Japanese patients with FS associated with afebrile seizures including GEFS+, and 100 control subjects.The R188W mutation was not found. 12165424 2002