Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555869758
rs1555869758
KCNQ2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. 9425895

1998
dbSNP: rs1555869758
rs1555869758
KCNQ2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR A potassium channel mutation in neonatal human epilepsy. 9430594

1998
dbSNP: rs1555869758
rs1555869758
KCNQ2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Seizure characteristics in chromosome 20 benign familial neonatal convulsions. 8327138

1993
dbSNP: rs1555869758
rs1555869758
KCNQ2
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