rs10910937 in
CACNA1E;LOC107985232 gene and
Amblyopia
PMID 30098192 2018 Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect.
rs13434070 in
LOC105374016 gene and
Amblyopia
PMID 30098192 2018 Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect.
rs201431517 in
MTFMT gene and
Amblyopia
PMID 21907147 2011 Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
PMID 24461907 2014 Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.