Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727503974
rs727503974
KCNQ2
A 0.700 CausalMutation CLINVAR Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 25959266

2015
dbSNP: rs727503974
rs727503974
KCNQ2
A 0.700 CausalMutation CLINVAR Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. 24318194

2014
dbSNP: rs727503974
rs727503974
KCNQ2
A 0.700 CausalMutation CLINVAR Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2. 23692823

2013
dbSNP: rs727503974
rs727503974
KCNQ2
A 0.700 CausalMutation CLINVAR KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. 22275249

2012