Variant: rs1057519643 

    present in Gene: SMCHD1
    present in Chromosome: 18
    Position on Chromosome: 2667015
    Alleles of this Variant: A/C

rs1057519643 in SMCHD1 gene and Arhinia, choanal atresia, and microphthalmia PMID 28067909 2017 SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

rs1057519643 in SMCHD1 gene and FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B PMID 28067909 2017 SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.