Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434458
rs121434458
COX1 ; COX2 ; ND2 ; TRNA
A 0.700 CausalMutation CLINVAR Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? 19718780

2009

dbSNP: rs121434458
rs121434458
COX1 ; COX2 ; ND2 ; TRNA
A 0.700 CausalMutation CLINVAR Pure myopathy associated with a novel mitochondrial tRNA gene mutation. 16476954

2006