Genetics University — Research, Education, Medical Genetics
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Gene entry

VSX1

visual system homeobox 1

Chromosome
20
Cytoband
20p11.21
Variants (rsID)
7

VSX1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 20 (region 20p11.21). Its official name is “visual system homeobox 1”. The reference table lists 7 variants (rsID) for this gene.

Clinically classified variants

4 reference-table entries with clinical significance.

  • rs148957473Conflicting interpretationssingle nucleotide variantPolymorphous corneal dystrophy|Keratoconus 1
  • rs74315433Conflicting interpretationssingle nucleotide variantPosterior polymorphous corneal dystrophy 1|Polymorphous corneal dystrophy
  • rs74315436Likely benignsingle nucleotide variantKeratoconus 1|Polymorphous corneal dystrophy
  • rs74315432Uncertain significancesingle nucleotide variantKeratoconus 1|Polymorphous corneal dystrophy

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.