Gene

COL1A1

COL1A1 encodes the pro-alpha1(I) chain of type I collagen, the major fibrillar collagen forming the structural scaffold of bone, skin, tendon, and ligament. Variants in COL1A1, including regulatory polymorphisms such as rs1800012, are linked to bone mineral density and connective-tissue strength, and severe mutations cause osteogenesis imperfecta.

Traits COL1A1 shapes

Collagen strength

Markers (rsIDs)

rs1800012

Reference databases

HGNC gene symbol report: COL1A1
NCBI Gene: COL1A1

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This page is for educational purposes only and is not medical advice. It is not intended to diagnose, treat, cure, or prevent any disease. Genetic results describe tendencies and predispositions, not diagnoses. Always consult a licensed clinician before making decisions about your health, medications, or supplements.