Variant (rsID / SNP)
rs1048100
rs1048100 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL9A3. Location: chromosome 20, position 61,472,073. Clinical significance in the table: Benign.
Reference-table entries
COL9A3Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:61472073
- Cytoband
- 20q13.33
- HGVS
- NM_001853.4(COL9A3):c.2044C>A (p.Arg682=)
- Allele change
- Synonymous_R682R
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.