Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs772751581
rs772751581
OXA1L
T 0.700 CausalMutation CLINVAR OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect. 30201738

2018