Variant (rsID / SNP)
rs33947415
rs33947415 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBB. Location: chromosome 11, position 5,247,914. 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
- 11:5247914
- Cytoband
- 11p15.4
- HGVS
- NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
- Allele change
- Missense_G70S
Associated conditions / phenotypes
HEMOGLOBIN CITY OF HOPE|beta Thalassemia|Dominant beta-thalassemia|Hb SS disease|beta Thalassemia|Fetal hemoglobin quantitative trait locus 1|Fetal hemoglobin quantitative trait locus 1|Hb SS disease|Hemoglobin E|9 conditions
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.