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Gene entry

RUNX1

RUNX family transcription factor 1

Chromosome
21
Cytoband
21q22.12
Variants (rsID)
72

RUNX1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 21 (region 21q22.12). Its official name is “RUNX family transcription factor 1”. The reference table lists 72 variants (rsID) for this gene.

Clinically classified variants

3 reference-table entries with clinical significance.

  • rs201164283Benignsingle nucleotide variantHereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • rs121912500Likely benignsingle nucleotide variantTransient myeloproliferative disorder of Down syndrome|Leukemia, acute myeloid, m0 subtype|Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • rs74315450Pathogenicsingle nucleotide variantHereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

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.