Variant: rs281875320 

    present in Gene: SMAD4
    present in Chromosome: 18
    Position on Chromosome: 51078308
    Alleles of this Variant: A/G

rs281875320 in SMAD4 gene and Myhre syndrome PMID 22243968 2012 A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.

PMID 22158539 2011 Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.