Variant: rs1131691804 

    present in Gene: FBN1
    present in Chromosome: 15
    Position on Chromosome: 48463123
    Alleles of this Variant: G/A

rs1131691804 in FBN1 gene and Geleophysic dysplasia PMID 27245183 2016 Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.

PMID 21683322 2011 Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.