Gene: KCNQ2 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516080
rs1057516080
KCNQ2 ; KCNQ2-AS1
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs1057516081
rs1057516081
KCNQ2 ; KCNQ2-AS1
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs1057516089
rs1057516089
KCNQ2
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs118192201
rs118192201
KCNQ2
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs118192203
rs118192203
KCNQ2
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs118192204
rs118192204
KCNQ2
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs118192205
rs118192205
KCNQ2
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs267607198
rs267607198
KCNQ2 ; LOC105372724
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs28939683
rs28939683
KCNQ2
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs28939684
rs28939684
KCNQ2
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs397514581
rs397514581
KCNQ2
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs74315390
rs74315390
KCNQ2
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs74315391
rs74315391
KCNQ2
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs1057516076
rs1057516076
KCNQ2 ; KCNQ2-AS1
C 0.800 CausalMutation CLINVAR Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755

2015
dbSNP: rs1057516080
rs1057516080
KCNQ2 ; KCNQ2-AS1
0.800 GeneticVariation UNIPROT Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755

2015
dbSNP: rs1057516080
rs1057516080
KCNQ2 ; KCNQ2-AS1
T 0.800 CausalMutation CLINVAR Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755

2015
dbSNP: rs1057516081
rs1057516081
KCNQ2 ; KCNQ2-AS1
0.800 GeneticVariation UNIPROT Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755

2015
dbSNP: rs1057516089
rs1057516089
KCNQ2
0.800 GeneticVariation UNIPROT Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755

2015
dbSNP: rs1057516110
rs1057516110
KCNQ2 ; LOC105372721
A 0.800 CausalMutation CLINVAR Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755

2015
dbSNP: rs1057516123
rs1057516123
KCNQ2 ; LOC105372724
C 0.800 CausalMutation CLINVAR Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755

2015
dbSNP: rs118192201
rs118192201
KCNQ2
0.800 GeneticVariation UNIPROT Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755

2015
dbSNP: rs118192203
rs118192203
KCNQ2
0.800 GeneticVariation UNIPROT Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755

2015
dbSNP: rs118192204
rs118192204
KCNQ2
0.800 GeneticVariation UNIPROT Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755

2015
dbSNP: rs118192205
rs118192205
KCNQ2
0.800 GeneticVariation UNIPROT Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755

2015
dbSNP: rs118192218
rs118192218
KCNQ2 ; LOC105372721
C 0.800 CausalMutation CLINVAR Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755

2015