Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1566433812
rs1566433812
OXA1L ; LOC105370404
TGCAGAGCA 0.700 CausalMutation CLINVAR OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect. 30201738

2018