Gene entry
PAX6
paired box 6
- Chromosome
- 11
- Cytoband
- 11p13
- Variants (rsID)
- 14
PAX6 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11p13). Its official name is “paired box 6”. The reference table lists 14 variants (rsID) for this gene.
Clinically classified variants
12 reference-table entries with clinical significance.
- rs3026398Benignsingle nucleotide variantAutosomal dominant keratitis|11p partial monosomy syndrome|carboxymethyl-dextran-A2-gadolinium-DOTA|Aniridia, Cerebellar Ataxia, And Intellectual Disability|Foveal hypoplasia 1|Anophthalmia-microphthalmia syndrome|Aniridia 1
- rs56139994Benignsingle nucleotide variantcarboxymethyl-dextran-A2-gadolinium-DOTA|Foveal hypoplasia 1|Aniridia 1|Autosomal dominant keratitis|Congenital aniridia|Anophthalmia-microphthalmia syndrome|11p partial monosomy syndrome|Aniridia 1|Irido-corneo-trabecular dysgenesis
- rs662702Benignsingle nucleotide variantFoveal hypoplasia 1|11p partial monosomy syndrome|Anophthalmia-microphthalmia syndrome|Autosomal dominant keratitis|Congenital aniridia|Aniridia 1|carboxymethyl-dextran-A2-gadolinium-DOTA|Aniridia 1|Irido-corneo-trabecular dysgenesis
- rs121907922Conflicting interpretationssingle nucleotide variantAniridia 1|8 conditions|Visual impairment|Hypertelorism|Nystagmus|Irido-corneo-trabecular dysgenesis|Aniridia 1
- rs143477661Conflicting interpretationssingle nucleotide variantcarboxymethyl-dextran-A2-gadolinium-DOTA|Aniridia, Cerebellar Ataxia, And Intellectual Disability|11p partial monosomy syndrome|Autosomal dominant keratitis|Anophthalmia-microphthalmia syndrome|Foveal hypoplasia 1|Aniridia 1|Irido-corneo-trabecular dysgenesis|Aniridia 1
- rs727504064Conflicting interpretationssingle nucleotide variantAnophthalmia-microphthalmia syndrome
- rs121907914Pathogenicsingle nucleotide variantAniridia 1|Irido-corneo-trabecular dysgenesis|Aniridia 1
- rs121907916Pathogenicsingle nucleotide variantAniridia 1|Irido-corneo-trabecular dysgenesis|Aniridia 1
- rs121907917Pathogenicsingle nucleotide variantAniridia 1|Aniridia 1|Irido-corneo-trabecular dysgenesis
- rs121907924Pathogenicsingle nucleotide variantOptic nerve hypoplasia, bilateral|Irido-corneo-trabecular dysgenesis|Aniridia 1
- rs794726661Pathogenicsingle nucleotide variantAniridia 1|Irido-corneo-trabecular dysgenesis|Aniridia 1
- rs4440995Not classifiedupstream_gene_variant
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.