rs121909324, CACNA1A

N. diseases: 4
Disease: Episodic ataxia type 2 (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Episodic ataxia type 2 (disorder)
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
0.700 GeneticVariation CLINVAR A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia. 10408533 1999
Episodic ataxia type 2 (disorder)
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
0.700 CausalMutation CLINVAR