Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909485
rs121909485
TSFM
0.800 GeneticVariation UNIPROT Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy. 27677415

2016
dbSNP: rs121909485
rs121909485
TSFM
0.800 GeneticVariation UNIPROT Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. 22499341

2012
dbSNP: rs121909485
rs121909485
TSFM
0.800 GeneticVariation UNIPROT Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. 17033963

2006
dbSNP: rs121909485
rs121909485
TSFM
T 0.800 CausalMutation CLINVAR

dbSNP: rs750799705
rs750799705
TSFM
0.700 GeneticVariation UNIPROT Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy. 27677415

2016
dbSNP: rs750799705
rs750799705
TSFM
0.700 GeneticVariation UNIPROT Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. 22499341

2012
dbSNP: rs750799705
rs750799705
TSFM
0.700 GeneticVariation UNIPROT Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. 17033963

2006
dbSNP: rs201754030
rs201754030
TSFM
T 0.700 CausalMutation CLINVAR

dbSNP: rs587777688
rs587777688
TSFM
A 0.700 CausalMutation CLINVAR

dbSNP: rs587777689
rs587777689
TSFM ; EEF1AKMT3
G 0.700 CausalMutation CLINVAR