Gene: KCNQ2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs118192192
rs118192192
KCNQ2 ; KCNQ2-AS1
C 0.700 CausalMutation CLINVAR KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. 18625963

2008
dbSNP: rs118192213
rs118192213
KCNQ2
AC 0.700 CausalMutation CLINVAR Benign familial neonatal convulsions: always benign? 17129708

2007
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: 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: rs118192235
rs118192235
KCNQ2 ; LOC105372724
T 0.700 CausalMutation CLINVAR