Disease: Ataxia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908212
rs121908212
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0004134
Disease:
Ataxia 		0.020 GeneticVariation BEFREE Methods Eight patients from a multigenerational FHM type 1 family harbouring a T666M mutation in the CACNA1A gene were referred to our ataxia outpatient clinic. 28856914 2018
dbSNP: rs121908212
rs121908212
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0004134
Disease:
Ataxia 		0.020 GeneticVariation BEFREE A single mutation (T666M) was found in CACNA1A in a patient with hemiplegic migraine and ataxia. 15210532 2004