Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs752298579
rs752298579
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
CUI: C0740279
Disease:
Cerebellar atrophy
A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781 2016