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Gene entry

COL1A1

collagen type I alpha 1 chain

Chromosome
17
Cytoband
17q21.33
Variants (rsID)
39

COL1A1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 17 (region 17q21.33). Its official name is “collagen type I alpha 1 chain”. The reference table lists 39 variants (rsID) for this gene.

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Clinically classified variants

35 reference-table entries with clinical significance.

  • rs1800012Associationsingle nucleotide variantBone mineral density variation quantitative trait locus
  • rs141726413Benignsingle nucleotide variantConnective tissue disorder|Infantile cortical hyperostosis|Osteogenesis imperfecta type I|Ehlers-Danlos syndrome, arthrochalasis type|Osteogenesis imperfecta|Ehlers-Danlos syndrome
  • rs149561221Benignsingle nucleotide variantOsteogenesis imperfecta|Infantile cortical hyperostosis|Ehlers-Danlos syndrome, arthrochalasis type|Osteogenesis imperfecta type I|Ehlers-Danlos syndrome
  • rs16948767Benignsingle nucleotide variantOsteogenesis imperfecta type I
  • rs1800219Benignsingle nucleotide variantInfantile cortical hyperostosis|Ehlers-Danlos syndrome, arthrochalasis type|Osteogenesis imperfecta|Osteogenesis imperfecta type I|Ehlers-Danlos syndrome
  • rs117672175Conflicting interpretationssingle nucleotide variantOsteogenesis imperfecta|Ehlers-Danlos syndrome, arthrochalasis type|Infantile cortical hyperostosis|Osteogenesis imperfecta type I|Ehlers-Danlos syndrome
  • rs139955975Conflicting interpretationssingle nucleotide variantInfantile cortical hyperostosis|Ehlers-Danlos syndrome, arthrochalasis type|Osteogenesis imperfecta|Osteogenesis imperfecta type I|Familial thoracic aortic aneurysm and aortic dissection|Ehlers-Danlos syndrome
  • rs1800214Conflicting interpretationssingle nucleotide variantInfantile cortical hyperostosis|Ehlers-Danlos syndrome, arthrochalasis type|Osteogenesis imperfecta|Inborn genetic diseases|Osteogenesis imperfecta type I|Ehlers-Danlos syndrome
  • rs193922142Conflicting interpretationssingle nucleotide variantOsteogenesis imperfecta|Osteogenesis imperfecta type I|Infantile cortical hyperostosis|Ehlers-Danlos syndrome, arthrochalasis type|See cases
  • rs193922150Conflicting interpretationssingle nucleotide variantOsteogenesis imperfecta|Osteogenesis imperfecta type I
  • rs193922153Conflicting interpretationssingle nucleotide variantOsteogenesis imperfecta type I|Familial thoracic aortic aneurysm and aortic dissection|Connective tissue disorder|Osteogenesis imperfecta|Ehlers-Danlos syndrome, arthrochalasis type|Infantile cortical hyperostosis|Ehlers-Danlos syndrome
  • rs201682029Conflicting interpretationssingle nucleotide variantInfantile cortical hyperostosis|Ehlers-Danlos syndrome, arthrochalasis type|Osteogenesis imperfecta|Connective tissue disorder|Osteogenesis imperfecta type I|Ehlers-Danlos syndrome
  • rs370865189Conflicting interpretationssingle nucleotide variantInfantile cortical hyperostosis|Osteogenesis imperfecta|Ehlers-Danlos syndrome, arthrochalasis type|Osteogenesis imperfecta type I
  • rs72667032Conflicting interpretationssingle nucleotide variantOsteogenesis imperfecta|Connective tissue disorder|Osteogenesis imperfecta type I|Infantile cortical hyperostosis|Ehlers-Danlos syndrome, arthrochalasis type|Ehlers-Danlos syndrome
  • rs193922140Likely pathogenicsingle nucleotide variantOsteogenesis imperfecta
  • rs193922147Likely pathogenicsingle nucleotide variantOsteogenesis imperfecta
  • rs193922148Likely pathogenicDeletionOsteogenesis imperfecta
  • rs193922152Likely pathogenicsingle nucleotide variantOsteogenesis imperfecta
  • rs193922155Likely pathogenicsingle nucleotide variantOsteogenesis imperfecta
  • rs193922158Likely pathogenicsingle nucleotide variantOsteogenesis imperfecta|Osteogenesis imperfecta type I
  • rs72645353Likely pathogenicsingle nucleotide variant
  • rs193922143PathogenicDeletionOsteogenesis imperfecta|Osteogenesis imperfecta type I
  • rs193922144Pathogenicsingle nucleotide variantOsteogenesis imperfecta
  • rs193922145Pathogenicsingle nucleotide variantOsteogenesis imperfecta
  • rs193922149PathogenicDeletionOsteogenesis imperfecta|Osteogenesis imperfecta type I
  • rs193922151PathogenicDeletionOsteogenesis imperfecta|Osteogenesis imperfecta type I
  • rs193922157Pathogenicsingle nucleotide variantOsteogenesis imperfecta|Osteogenesis imperfecta type I
  • rs67507747Pathogenicsingle nucleotide variantOsteogenesis imperfecta type I|Osteogenesis imperfecta|Ehlers-Danlos syndrome
  • rs72645328Pathogenicsingle nucleotide variantOsteogenesis imperfecta|Osteogenesis imperfecta type I
  • rs72645347Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, classic type|Bruising susceptibility|Fragile skin|Joint hypermobility|Osteogenesis imperfecta type I|Osteogenesis imperfecta with normal sclerae, dominant form|Ehlers-Danlos syndrome
  • rs72645357Pathogenicsingle nucleotide variantOsteogenesis imperfecta type III|Osteogenesis imperfecta|Osteogenesis imperfecta with normal sclerae, dominant form|Osteogenesis imperfecta type I|7 conditions
  • rs72648320Pathogenicsingle nucleotide variantOsteogenesis imperfecta|Osteogenesis imperfecta type I
  • rs72653170Pathogenicsingle nucleotide variantInfantile cortical hyperostosis|Osteogenesis imperfecta type I|7 conditions
  • rs72653173Pathogenicsingle nucleotide variantOsteogenesis imperfecta|Osteogenesis imperfecta type I|Infantile cortical hyperostosis|Ehlers-Danlos syndrome, arthrochalasis type|Osteogenesis imperfecta|Abnormality of the skeletal system
  • rs72667023PathogenicDeletionOsteogenesis imperfecta|Osteogenesis imperfecta type I|Postmenopausal osteoporosis

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.