Variant (rsID / SNP)
rs7867
rs7867 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COL18A1, SLC19A1. Location: chromosome 21, position 46,932,652. Clinical significance in the table: Benign.
Reference-table entries
COL18A1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:46932652
- Cytoband
- 21q22.3
- HGVS
- NM_001379500.1(COL18A1):c.*340G>A
- Allele change
- Silent
Associated conditions / phenotypes
Knobloch syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.