Variant (rsID / SNP)
rs33931746
rs33931746 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBB. Location: chromosome 11, position 5,248,329. Clinical significance in the table: Pathogenic.
Reference-table entries
HBBPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:5248329
- Cytoband
- 11p15.4
- HGVS
- NM_000518.5(HBB):c.-78A>C
Associated conditions / phenotypes
Beta-plus-thalassemia|beta Thalassemia|Hb SS disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.