Variant: rs764693725 

    present in Gene: COL5A1
    present in Chromosome: 9
    Position on Chromosome: 134801983
    Alleles of this Variant: C/-;CC

rs764693725 in COL5A1 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.

PMID 22696272 2012 Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.