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Gene entry

SIX6

SIX homeobox 6

Chromosome
14
Cytoband
14q23.1
Variants (rsID)
4

SIX6 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q23.1). Its official name is “SIX homeobox 6”. The reference table lists 4 variants (rsID) for this gene.

Clinically classified variants

2 reference-table entries with clinical significance.

  • rs146737847Conflicting interpretationssingle nucleotide variantAnophthalmia/microphthalmia-esophageal atresia syndrome|Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome|Anophthalmia-microphthalmia syndrome
  • rs786205142Likely pathogenicDeletionColobomatous optic disc-macular atrophy-chorioretinopathy 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.