Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727502818
rs727502818
KCNC1
0.710 GeneticVariation BEFREE A recurrent p.Arg320His mutation in KCNC1 was identified in the two brothers who showed characteristic features of MEAK: near normal early development, onset of myoclonus around 10 years of age, infrequent generalized tonic-clonic seizures, relatively mild cognitive impairment, and generalized epileptiform discharges. 29428275

2018
dbSNP: rs727502818
rs727502818
KCNC1
A 0.710 CausalMutation CLINVAR