Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs372949028
rs372949028
TANGO2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		A 0.700 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016