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: rs121908247
rs121908247
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder) 		T 0.700 CausalMutation CLINVAR Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially. 28742085 2017
dbSNP: rs121908247
rs121908247
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C1720416
Disease:
Episodic ataxia type 2 (disorder) 		T 0.700 CausalMutation CLINVAR Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. 16325861 2006