Variant: rs1085307066 

    present in Gene: FBN2
    present in Chromosome: 5
    Position on Chromosome: 128274648
    Alleles of this Variant: G/A

rs1085307066 in FBN2 gene and Congenital contractural arachnodactyly PMID 11285249 2001 Mutation of the gene encoding fibrillin-2 results in syndactyly in mice.

PMID 11470817 2001 Regulation of limb patterning by extracellular microfibrils.

PMID 11754102 2002 Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.