Genetics University — Research, Education, Medical Genetics
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Gene entry

SHOX

SHOX homeobox

Chromosome
X|Y
Cytoband
X;Y
Variants (rsID)
17

SHOX is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X|Y (region X;Y). Its official name is “SHOX homeobox”. The reference table lists 17 variants (rsID) for this gene.

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Clinically classified variants

9 reference-table entries with clinical significance.

  • rs193922466Likely pathogenicsingle nucleotide variantSHOX-related short stature
  • rs137852552Pathogenicsingle nucleotide variantSHOX-related short stature|Leri-Weill dyschondrosteosis
  • rs137852553Pathogenicsingle nucleotide variantLeri-Weill dyschondrosteosis
  • rs137852554Pathogenicsingle nucleotide variantLeri-Weill dyschondrosteosis
  • rs137852555Pathogenicsingle nucleotide variantLeri-Weill dyschondrosteosis
  • rs137852556Pathogenicsingle nucleotide variantLeri-Weill dyschondrosteosis
  • rs137852558Pathogenicsingle nucleotide variantLeri-Weill dyschondrosteosis
  • rs397514462Pathogenicsingle nucleotide variantLeri-Weill dyschondrosteosis
  • rs137852559Uncertain significancesingle nucleotide variantLeri-Weill dyschondrosteosis

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.