Variant (rsID / SNP)
rs794726661
rs794726661 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAX6. Location: chromosome 11, position 31,812,410. Clinical significance in the table: Pathogenic.
Reference-table entries
PAX6Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:31812410
- Cytoband
- 11p13
- HGVS
- NM_001368894.2(PAX6):c.1075-2A>G
- Allele change
- Silent
Associated conditions / phenotypes
Aniridia 1|Irido-corneo-trabecular dysgenesis|Aniridia 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.