Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs67486287
rs67486287
0.010 GeneticVariation BEFREE The S248R and R250T mutations of SCN1Bβ gene caused gain-of-function of I<sub>to</sub> by associated with Kv4.3, which maybe underlie the ERS phenotype of the probands. 30160358

2018