Variant (rsID / SNP)
rs2228565
rs2228565 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL9A2. Location: chromosome 1, position 40,775,937. Clinical significance in the table: Benign.
Reference-table entries
COL9A2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:40775937
- Cytoband
- 1p34.2
- HGVS
- NM_001852.4(COL9A2):c.737C>T (p.Thr246Met)
- Allele change
- Missense_T246M
Associated conditions / phenotypes
Epiphyseal dysplasia, multiple, 2|Connective tissue disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.