Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201431517
rs201431517
MTFMT
A 0.700 CausalMutation CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907

2014
dbSNP: rs201431517
rs201431517
MTFMT
A 0.700 CausalMutation CLINVAR Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147

2011
dbSNP: rs121434456
rs121434456
COX3 ; ND3 ; ND4 ; ND4L ; ND5 ; TRNR
G 0.700 CausalMutation CLINVAR

dbSNP: rs121434462
rs121434462
ND4 ; ND5 ; TRNL2
A 0.700 CausalMutation CLINVAR

dbSNP: rs199474661
rs199474661
ND1 ; ND2 ; TRNL1
G 0.700 CausalMutation CLINVAR

dbSNP: rs207459999
rs207459999
CYTB ; ND6
A 0.700 CausalMutation CLINVAR

dbSNP: rs387906731
rs387906731
COX3 ; ND3 ; ND4 ; ND4L ; ND5 ; TRNR
G 0.700 CausalMutation CLINVAR

dbSNP: rs387906736
rs387906736
COX1 ; ND2 ; TRNW
A 0.700 CausalMutation CLINVAR

dbSNP: rs397514610
rs397514610
FARS2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs397514615
rs397514615
MFF
T 0.700 GeneticVariation CLINVAR

dbSNP: rs398123061
rs398123061
FBXL4
A 0.700 GeneticVariation CLINVAR

dbSNP: rs587777593
rs587777593
TARS2
0.010 GeneticVariation BEFREE Some aaRS mutations cause mitochondrial disorders, including human mitochondrial threonyl-tRNA synthetase (hmtThrRS) (encoded by TARS2), the P282L mutation of which causes mitochondrial encephalomyopathies. 26811336

2016