Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796052676
rs796052676
KCNQ3
A 0.700 GeneticVariation CLINVAR

dbSNP: rs796052676
rs796052676
KCNQ3
A 0.700 CausalMutation CLINVAR

dbSNP: rs1162306056
rs1162306056
KCNQ3
0.010 GeneticVariation BEFREE The mutation in KCNQ3, c.989G>A, was novel and occurred in an infant with BFNS. 25052858

2014
dbSNP: rs74582884
rs74582884
KCNQ3
0.010 GeneticVariation BEFREE In this study, we describe a sporadic case of BFNS; the affected child carried heterozygous missense mutations in both K(v)7.2 (D212G) and K(v)7.3 (P574S) alleles. 19344764

2009