Variant: rs1135402740 

    present in Gene: SMCHD1
    present in Chromosome: 18
    Position on Chromosome: 2674018
    Alleles of this Variant: T/G

rs1135402740 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.

rs1135402740 in SMCHD1 gene and Cryptorchidism PMID 28067909 2017 SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

rs1135402740 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.

rs1135402740 in SMCHD1 gene and Small penis PMID 28067909 2017 SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.