Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555850151
rs1555850151
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		GGCCCA 0.700 GeneticVariation CLINVAR Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A. 24375629

2014
dbSNP: rs1555850151
rs1555850151
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		GGCCCA 0.700 GeneticVariation CLINVAR A novel degradation signal derived from distal C-terminal frameshift mutations of KCNQ2 protein which cause neonatal epilepsy. 21937445

2011
dbSNP: rs1555850151
rs1555850151
KCNQ2
CUI: C0036572
Disease: Seizures
Seizures 		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