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Gene entry

SKI

SKI proto-oncogene

Chromosome
1
Cytoband
1p36.33-p36.32
Variants (rsID)
34

SKI is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1p36.33-p36.32). Its official name is “SKI proto-oncogene”. The reference table lists 34 variants (rsID) for this gene.

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Clinically classified variants

10 reference-table entries with clinical significance.

  • rs1496555Benignsingle nucleotide variant
  • rs141862996Conflicting interpretationssingle nucleotide variantShprintzen-Goldberg syndrome|Cardiovascular phenotype
  • rs149642284Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Shprintzen-Goldberg syndrome
  • rs199634070Conflicting interpretationssingle nucleotide variantShprintzen-Goldberg syndrome
  • rs370921440Conflicting interpretationssingle nucleotide variantShprintzen-Goldberg syndrome
  • rs773151547Conflicting interpretationssingle nucleotide variantShprintzen-Goldberg syndrome
  • rs150934009Likely benignsingle nucleotide variantShprintzen-Goldberg syndrome|Cardiovascular phenotype
  • rs387907303Pathogenicsingle nucleotide variantShprintzen-Goldberg syndrome
  • rs387907304Pathogenicsingle nucleotide variantShprintzen-Goldberg syndrome|Inborn genetic diseases
  • rs387907305Pathogenicsingle nucleotide variantShprintzen-Goldberg 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.