rs121909324, CACNA1A

N. diseases: 4
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
Spinocerebellar Ataxia Type 6 (disorder)
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
0.700 CausalMutation CLINVAR
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
0.700 CausalMutation CLINVAR
Episodic ataxia type 2 (disorder)
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
0.700 CausalMutation CLINVAR
Hemiplegic migraine, familial type 1
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
0.700 CausalMutation CLINVAR