Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556423547
rs1556423547
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
C 0.700 CausalMutation CLINVAR Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome. 24118886

2013