rs121908215, CACNA1A

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Progressive cerebellar ataxia
CUI: C0393525
Disease: Progressive cerebellar ataxia
0.010 GeneticVariation BEFREE In addition to altered channel function, the deficiency in protein misfolding and trafficking associated with the C287Y and G293R mutants may contribute to the slowly progressive cerebellar ataxia. 15985579 2005