Variant (rsID / SNP)
rs33930165
rs33930165 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBB, LOC106099062, LOC107133510. Location: chromosome 11, position 5,248,233. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
HBBConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:5248233
- Cytoband
- 11p15.4
- HGVS
- NM_000518.4(HBB):c.19G>A (p.Glu7Lys)
- Allele change
- Missense_E7K
Associated conditions / phenotypes
HEMOGLOBIN C|Malaria, resistance to|Hb SS disease|beta Thalassemia|9 conditions|Heinz body anemia|Beta-thalassemia HBB/LCRB
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.