Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555873985
rs1555873985
KCNQ2 ; KCNQ2-AS1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. 12742592

2003
dbSNP: rs1555873985
rs1555873985
KCNQ2 ; KCNQ2-AS1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone. 6965523

1980
dbSNP: rs1555873985
rs1555873985
KCNQ2 ; KCNQ2-AS1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. 24107868

2013
dbSNP: rs1555873985
rs1555873985
KCNQ2 ; KCNQ2-AS1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016