Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118192250
rs118192250
KCNQ3
A 0.810 CausalMutation CLINVAR

dbSNP: rs118192248
rs118192248
KCNQ3
C 0.800 CausalMutation CLINVAR

dbSNP: rs118192249
rs118192249
KCNQ3
G 0.800 CausalMutation CLINVAR

dbSNP: rs118192251
rs118192251
KCNQ3
A 0.710 GeneticVariation CLINVAR

dbSNP: rs118192251
rs118192251
KCNQ3
A 0.710 CausalMutation CLINVAR

dbSNP: rs118192235
rs118192235
KCNQ2 ; LOC105372724
T 0.700 CausalMutation CLINVAR

dbSNP: rs118192247
rs118192247
KCNQ3
T 0.700 CausalMutation CLINVAR

dbSNP: rs118192252
rs118192252
KCNQ3
C 0.700 CausalMutation CLINVAR

dbSNP: rs118192254
rs118192254
KCNQ3
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554627439
rs1554627439
KCNQ3
G 0.700 GeneticVariation CLINVAR

dbSNP: rs749205120
rs749205120
KCNQ3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs796052676
rs796052676
KCNQ3
A 0.700 GeneticVariation CLINVAR

dbSNP: rs796052676
rs796052676
KCNQ3
A 0.700 CausalMutation CLINVAR

dbSNP: rs74315392
rs74315392
KCNQ2
C 0.700 CausalMutation CLINVAR Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. 12742592

2003
dbSNP: rs267607198
rs267607198
KCNQ2 ; LOC105372724
A 0.700 CausalMutation CLINVAR A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. 15249611

2004
dbSNP: rs118192250
rs118192250
KCNQ3
0.810 GeneticVariation BEFREE The same mutation with a comparable localization in the KCNQ3 (G310V) gene has been found in BFNS patients. 16691402

2006
dbSNP: rs118192213
rs118192213
KCNQ2
AC 0.700 CausalMutation CLINVAR Benign familial neonatal convulsions: always benign? 17129708

2007
dbSNP: rs118192192
rs118192192
KCNQ2 ; KCNQ2-AS1
C 0.700 CausalMutation CLINVAR KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. 18625963

2008
dbSNP: rs118192202
rs118192202
KCNQ2
0.010 GeneticVariation BEFREE Electrophysiological experiments revealed that the K(v)7.2 D212G substitution, neutralizing a unique negatively-charged residue in the voltage sensor of K(v)7.2 subunits, altered channel gating, leading to a marked destabilization of the open state, a result consistent with structural analysis of the K(v)7.2 subunit, suggesting a possible pathogenetic role for BFNS of this K(v)7.2 mutation. 19344764

2009
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
dbSNP: rs118192192
rs118192192
KCNQ2 ; KCNQ2-AS1
C 0.700 CausalMutation CLINVAR Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes. 19464834

2009
dbSNP: rs118192250
rs118192250
KCNQ3
0.810 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs118192248
rs118192248
KCNQ3
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs118192249
rs118192249
KCNQ3
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
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