Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044872
rs797044872
Entrez Id: 3748
Gene Symbol: KCNC3
KCNC3
CUI: C0393525
Disease:
Progressive cerebellar ataxia
0.010 GeneticVariation BEFREE In two families the p.Arg423His mutation was associated with early-onset slow-progressive ataxia. 19953606 2010