Variant: rs281875282 

    present in Gene: FREM1
    present in Chromosome: 9
    Position on Chromosome: 14740218
    Alleles of this Variant: C/G;T

rs281875282 in FREM1 gene and Marles Greenberg Persaud syndrome 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.