Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201431517
rs201431517
CUI: C0349588
Disease: Short stature
Short stature
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
CUI: C0349588
Disease: Short stature
Short stature
A 0.700 CausalMutation CLINVAR Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147

2011