Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
0.700 GeneticVariation CLINVAR The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. 28252636 2017
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
0.700 GeneticVariation CLINVAR Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. 29264397 2017