Disease: Cerebellar Ataxia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041761
rs886041761
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0007758
Disease:
Cerebellar Ataxia 		0.010 GeneticVariation BEFREE Follow-up analysis of > 2,000 patients with various neurological phenotypes identified a de novo p.R294H mutation in a proband with ataxia and ID. 27543892 2016