Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs375002796
rs375002796
MDH2
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		T 0.700 CausalMutation CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324

2017