Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776435
rs587776435
COX1 ; ND2 ; TRNW
G 0.700 CausalMutation CLINVAR Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome. 19349200

2009

dbSNP: rs199474672
rs199474672
COX1 ; ND2 ; TRNW
AT 0.700 CausalMutation CLINVAR Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene. 12776230

2003

dbSNP: rs199474672
rs199474672
COX1 ; ND2 ; TRNW
AT 0.700 CausalMutation CLINVAR Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene. 9266739

1997