Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917984
rs121917984
0.020 GeneticVariation BEFREE This "functional dominant negative" interaction would produce a more profound disinhibition than seen with haploinsufficiency that is typical of Dravet syndrome and could readily explain the more severe phenotype of patients with T226M mutation. 31257984

2020

dbSNP: rs121917984
rs121917984
0.020 GeneticVariation BEFREE This "functional dominant negative" interaction would produce a more profound disinhibition than seen with haploinsufficiency that is typical of Dravet syndrome and could readily explain the more severe phenotype of patients with T226M mutation.Ann Neurol 2019;85:514-525. 30779207

2019