Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906929
rs387906929
ATP5F1E ; SLMO2-ATP5E
0.800 GeneticVariation UNIPROT Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. 20566710

2010
dbSNP: rs387906929
rs387906929
ATP5F1E ; SLMO2-ATP5E
C 0.800 CausalMutation CLINVAR