Variant: rs1410254723 

    present in Gene: COL1A2
    present in Chromosome: 7
    Position on Chromosome: 94404574
    Alleles of this Variant: G/A

rs1410254723 in COL1A2 gene and EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 PMID 7695699 1994 Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.

PMID 9016532 1997 The human type I collagen mutation database.

PMID 19344236 2009 Collagen structure and stability.

PMID 8218237 1993 Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.

PMID 17078022 2007 Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

rs1410254723 in COL1A2 gene and Lobstein Disease PMID 19344236 2009 Collagen structure and stability.

PMID 7695699 1994 Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.

PMID 17078022 2007 Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

PMID 9016532 1997 The human type I collagen mutation database.

PMID 8218237 1993 Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.