Disease: Episodic ataxia type 2 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1568473233
rs1568473233
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder) 		A 0.700 CausalMutation CLINVAR Clinical reasoning: a middle-aged man with episodes of gait imbalance and a newly found genetic mutation. 23071170 2012
dbSNP: rs1568473233
rs1568473233
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder) 		A 0.700 CausalMutation CLINVAR A novel de novo pathogenic mutation in the CACNA1A gene. 23038654 2012