Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs867410737
rs867410737
ATP5F1D
CUI: C1859516
Disease: Episodic metabolic acidosis
Episodic metabolic acidosis 		T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018