Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796053124
rs796053124
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1720189
Disease:
Episodic Ataxia
T 0.700 CausalMutation CLINVAR SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. 20956790 2010
dbSNP: rs387906686
rs387906686
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1720189
Disease:
Episodic Ataxia
T 0.700 CausalMutation CLINVAR