Variant (rsID / SNP)
rs34151786
rs34151786 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBB. Location: chromosome 11, position 5,247,934. Clinical significance in the table: other.
Reference-table entries
HBBOther
- Clinical significance (as recorded)
- other
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:5247934
- Cytoband
- 11p15.4
- HGVS
- NM_000518.5(HBB):c.188C>A (p.Ala63Asp)
- Allele change
- Missense_A63D
Associated conditions / phenotypes
HEMOGLOBIN J (EUROPA)
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.