Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs151344517
rs151344517
Entrez Id: 10939;84617;107985154
Gene Symbol: AFG3L2;TUBB6;LOC107985154
AFG3L2;TUBB6;LOC107985154
CUI: C1855650
Disease:
Birth length less than 3rd percentile
T 0.700 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010