Variant: rs1057519642 

    present in Gene: SMCHD1
    present in Chromosome: 18
    Position on Chromosome: 2697898
    Alleles of this Variant: A/T

rs1057519642 in SMCHD1 gene and Anosmia PMID 28067909 2017 SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

rs1057519642 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.

rs1057519642 in SMCHD1 gene and Short nose PMID 28067909 2017 SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.