Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1294950721
rs1294950721
JAG1
A 0.700 CausalMutation CLINVAR

dbSNP: rs74315391
rs74315391
KCNQ2
0.010 GeneticVariation BEFREE We propose that a difference in firing patterns between motoneurons and central neurons, combined with the drastically slowed voltage activation of the R207W mutant, explains why this particular KCNQ2 mutant causes myokymia in addition to BFNC. 11572947

2001