Variant: rs1060500740 

    present in Gene: SMAD4
    present in Chromosome: 18
    Position on Chromosome: 51076778
    Alleles of this Variant: T/C

rs1060500740 in SMAD4 gene and Juvenile polyposis syndrome PMID 16436638 2006 Mutation screening in juvenile polyposis syndrome.

PMID 21572342 2012 Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia.