Gene: KCNA2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205232
rs786205232
KCNA2
T 0.700 CausalMutation CLINVAR An essential 'set' of K+ channels conserved in flies, mice and humans. 1377421

1992
dbSNP: rs786205232
rs786205232
KCNA2
T 0.700 CausalMutation CLINVAR Contribution of the S4 segment to gating charge in the Shaker K+ channel. 8663993

1996
dbSNP: rs786205232
rs786205232
KCNA2
T 0.700 CausalMutation CLINVAR Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. 27733563

2016