Variant: rs1181638652

present in Gene: FN1 present in Chromosome: 2 Position on Chromosome: 215430725 Alleles of this Variant: G/A;C

rs1181638652 in FN1 gene and Spondylometaphyseal dysplasia, 'corner fracture' type PMID 29100092 2017 "Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ""Corner Fractures""."