Variant: rs1553513657 

    present in Gene: COL5A2
    present in Chromosome: 2
    Position on Chromosome: 189045799
    Alleles of this Variant: C/T

rs1553513657 in COL5A2 gene and EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 PMID 23587214 2013 Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.