Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516082
rs1057516082
KCNQ2
G 0.700 CausalMutation CLINVAR Myoclonic epilepsy evolved into West syndrome: a patient with a novel de novo KCNQ2 mutation. 25092550

2015
dbSNP: rs1057516082
rs1057516082
KCNQ2
G 0.700 CausalMutation CLINVAR Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 25959266

2015