Genetics University — Research, Education, Medical Genetics
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Gene entry

COL9A1

collagen type IX alpha 1 chain

Chromosome
6
Cytoband
6q13
Variants (rsID)
28

COL9A1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 6 (region 6q13). Its official name is “collagen type IX alpha 1 chain”. The reference table lists 28 variants (rsID) for this gene.

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Clinically classified variants

6 reference-table entries with clinical significance.

  • rs1135056Benignsingle nucleotide variantEpiphyseal dysplasia, multiple, 6
  • rs151129325Benignsingle nucleotide variant
  • rs2459555Benignsingle nucleotide variant
  • rs592121Benignsingle nucleotide variantEpiphyseal dysplasia, multiple, 6
  • rs77706858Benignsingle nucleotide variantEpiphyseal dysplasia, multiple, 6|Connective tissue disorder
  • rs149830493Conflicting interpretationssingle nucleotide variantEpiphyseal dysplasia, multiple, 6|Stickler syndrome, type 4|COL9A1-Related Disorders

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.