Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118192251
rs118192251
KCNQ3
0.710 GeneticVariation BEFREE The degree of functional impairment of channels incorporating KCNQ3 R330L subunits was larger than that of channels carrying another KCNQ3 mutation affecting the same codon but leading to a different amino acid substitution (p.R330C), previously identified in two families with typical BFNS. 25524373

2015
dbSNP: rs118192251
rs118192251
KCNQ3
A 0.710 GeneticVariation CLINVAR

dbSNP: rs118192251
rs118192251
KCNQ3
A 0.710 CausalMutation CLINVAR