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Gene entry

SETBP1

SET binding protein 1

Chromosome
18
Cytoband
18q12.3
Variants (rsID)
96

SETBP1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 18 (region 18q12.3). Its official name is “SET binding protein 1”. The reference table lists 96 variants (rsID) for this gene.

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Clinically classified variants

9 reference-table entries with clinical significance.

  • rs146193261Benignsingle nucleotide variant
  • rs267607038Conflicting interpretationssingle nucleotide variantSchinzel-Giedion syndrome|Intellectual disability, autosomal dominant 29|Fetal akinesia deformation sequence 1|Arthrogryposis multiplex congenita
  • rs3744824Conflicting interpretationssingle nucleotide variantSchinzel-Giedion syndrome
  • rs574196735Conflicting interpretationssingle nucleotide variantSchinzel-Giedion syndrome
  • rs200927313Likely benignsingle nucleotide variant
  • rs267607040Pathogenicsingle nucleotide variantSchinzel-Giedion syndrome|Chronic myelogenous leukemia, BCR-ABL1 positive
  • rs267607042Pathogenicsingle nucleotide variantSchinzel-Giedion syndrome|Intellectual disability, autosomal dominant 29|Schinzel-Giedion syndrome
  • rs606231272Pathogenicsingle nucleotide variantIntellectual disability, autosomal dominant 29|Intellectual disability, autosomal dominant 29|Schinzel-Giedion syndrome
  • rs606231273Pathogenicsingle nucleotide variantIntellectual disability, autosomal dominant 29|Intellectual disability, autosomal dominant 29|Schinzel-Giedion syndrome

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.