Variant: rs1564482508

present in Gene: LOC101448202;COL5A1 present in Chromosome: 9 Position on Chromosome: 134820224 Alleles of this Variant: G/C

rs1564482508 in LOC101448202;COL5A1 gene and EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 PMID 23587214 2013 Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.