Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201431517
rs201431517
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
A 0.700 CausalMutation CLINVAR Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147

2011

dbSNP: rs121434476
rs121434476
COX3 ; ND3 ; ND4 ; ND4L ; TRNG
C 0.700 CausalMutation CLINVAR

dbSNP: rs207459997
rs207459997
CYTB ; ND6
A 0.700 CausalMutation CLINVAR

dbSNP: rs207459998
rs207459998
CYTB ; ND6
A 0.700 CausalMutation CLINVAR

dbSNP: rs207460000
rs207460000
CYTB ; ND6
A 0.700 CausalMutation CLINVAR

dbSNP: rs207460001
rs207460001
CYTB ; ND6
C 0.700 CausalMutation CLINVAR

dbSNP: rs760187215
rs760187215
T 0.700 GeneticVariation CLINVAR