Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205232
rs786205232
KCNA2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Voltage sensor of Kv1.2: structural basis of electromechanical coupling. 16002579

2005
dbSNP: rs786205232
rs786205232
KCNA2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Voltage-sensing arginines in a potassium channel permeate and occlude cation-selective pores. 15694325

2005
dbSNP: rs786205232
rs786205232
KCNA2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Voltage-sensing residues in the S2 and S4 segments of the Shaker K+ channel. 8663992

1996