Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041761
rs886041761
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Seizures and reduced life span in mice lacking the potassium channel subunit Kv1.2, but hypoexcitability and enlarged Kv1 currents in auditory neurons. 17634333 2007
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR How does voltage open an ion channel? 16704338 2006
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR How does voltage open an ion channel? 16704338 2006
dbSNP: rs886041761
rs886041761
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR How does voltage open an ion channel? 16704338 2006
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Crystal structure of a mammalian voltage-dependent Shaker family K+ channel. 16002581 2005
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Voltage sensor of Kv1.2: structural basis of electromechanical coupling. 16002579 2005
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Crystal structure of a mammalian voltage-dependent Shaker family K+ channel. 16002581 2005
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease:
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
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR The channelopathies: novel insights into molecular and genetic mechanisms of human disease. 16075038 2005
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR The channelopathies: novel insights into molecular and genetic mechanisms of human disease. 16075038 2005
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Voltage sensor of Kv1.2: structural basis of electromechanical coupling. 16002579 2005
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Voltage-sensing arginines in a potassium channel permeate and occlude cation-selective pores. 15694325 2005
dbSNP: rs886041761
rs886041761
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR The channelopathies: novel insights into molecular and genetic mechanisms of human disease. 16075038 2005
dbSNP: rs886041761
rs886041761
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Voltage-sensing arginines in a potassium channel permeate and occlude cation-selective pores. 15694325 2005
dbSNP: rs886041761
rs886041761
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Crystal structure of a mammalian voltage-dependent Shaker family K+ channel. 16002581 2005
dbSNP: rs886041761
rs886041761
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Voltage sensor of Kv1.2: structural basis of electromechanical coupling. 16002579 2005
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR A proton pore in a potassium channel voltage sensor reveals a focused electric field. 14765197 2004
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR A proton pore in a potassium channel voltage sensor reveals a focused electric field. 14765197 2004
dbSNP: rs886041761
rs886041761
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR A proton pore in a potassium channel voltage sensor reveals a focused electric field. 14765197 2004
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Contributions of Kv1.2, Kv1.5 and Kv2.1 subunits to the native delayed rectifier K(+) current in rat mesenteric artery smooth muscle cells. 12127166 2002
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR The voltage-gated potassium channels and their relatives. 12214225 2002
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR The voltage-gated potassium channels and their relatives. 12214225 2002
dbSNP: rs786205232
rs786205232
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Contributions of Kv1.2, Kv1.5 and Kv2.1 subunits to the native delayed rectifier K(+) current in rat mesenteric artery smooth muscle cells. 12127166 2002
dbSNP: rs886041761
rs886041761
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR The voltage-gated potassium channels and their relatives. 12214225 2002
dbSNP: rs886041761
rs886041761
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Contributions of Kv1.2, Kv1.5 and Kv2.1 subunits to the native delayed rectifier K(+) current in rat mesenteric artery smooth muscle cells. 12127166 2002