Variant (rsID / SNP)
rs7946748
rs7946748 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBB. Location: chromosome 11, position 5,247,726. Clinical significance in the table: Benign.
Reference-table entries
HBBBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:5247726
- Cytoband
- 11p15.4
- HGVS
- NM_000518.5(HBB):c.315+81C>T
- Allele change
- Silent
Associated conditions / phenotypes
beta Thalassemia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.