Variant (rsID / SNP)
rs2294988
rs2294988 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL9A3. Location: chromosome 20, position 61,453,549. Clinical significance in the table: Benign.
Reference-table entries
COL9A3Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:61453549
- Cytoband
- 20q13.33
- HGVS
- NM_001853.4(COL9A3):c.477+33G>A
- Allele change
- Silent
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.