Gene: KCNQ2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118192226
rs118192226
KCNQ2
A 0.700 CausalMutation CLINVAR Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction. 14985406

2004
dbSNP: rs118192226
rs118192226
KCNQ2
A 0.700 CausalMutation CLINVAR KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. 14534157

2003
dbSNP: rs1555850151
rs1555850151
KCNQ2
GGCCCA 0.700 GeneticVariation CLINVAR KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. 14534157

2003
dbSNP: rs118192226
rs118192226
KCNQ2
A 0.700 CausalMutation CLINVAR Familial neonatal and infantile seizures: an autosomal-dominant disorder. 6476007

1984
dbSNP: rs118192212
rs118192212
KCNQ2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555869758
rs1555869758
KCNQ2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1568925507
rs1568925507
KCNQ2
TCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAAC 0.700 CausalMutation CLINVAR

dbSNP: rs1568927820
rs1568927820
KCNQ2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs397514582
rs397514582
KCNQ2
A 0.700 CausalMutation CLINVAR

dbSNP: rs794727134
rs794727134
KCNQ2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs794727740
rs794727740
KCNQ2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs794727741
rs794727741
KCNQ2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs797044938
rs797044938
KCNQ2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs886041339
rs886041339
KCNQ2
CG 0.700 CausalMutation CLINVAR