Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205232
rs786205232
KCNA2
T 0.800 CausalMutation CLINVAR Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. 27733563

2016
dbSNP: rs786205232
rs786205232
KCNA2
T 0.800 CausalMutation CLINVAR Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. 25477152

2015
dbSNP: rs786205232
rs786205232
KCNA2
T 0.800 CausalMutation CLINVAR De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
dbSNP: rs786205232
rs786205232
KCNA2
0.800 GeneticVariation UNIPROT