Variant: rs281875281 

    present in Gene: FREM1;LOC105375979
    present in Chromosome: 9
    Position on Chromosome: 14792753
    Alleles of this Variant: A/C

rs281875281 in FREM1;LOC105375979 gene and Marles Greenberg Persaud syndrome PMID 17352387 2007 Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.

PMID 21507892 2011 Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.

PMID 28111185 2017 Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.

PMID 23112756 2012 MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features.