Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs556893466
rs556893466
SCN1A ; SCN1A-AS1 ; LOC102724058
0.010 GeneticVariation BEFREE One of the mosaic carriers with ~25.0% mutation of c.5768A>G/p.Q1923R had experienced simple FS; another with ~12.5% mutation of c.4847T>C/p.I1616T was asymptomatic.Their heterozygous children had PEFS+. 22151702

2012