rs33986703
A SNP in the HBB gene on chromosome 11. Its most notable genotype is A;A: Beta Thalassemia major; Hemoglobin beta-zero; possibly transfusion dependent
- Gene
- HBB
- Location
- Chr 115,226,970 (GRCh38)
- Highest magnitude
- 5.5Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TGoodcommon in complete genomics
- A;TBadBeta Thalassemia carrier; Hemoglobin beta-zero mutation; anemia possible
- AA;AAGoodcommon in clinvar
- A;AMost notableBadBeta Thalassemia major; Hemoglobin beta-zero; possibly transfusion dependent
SNPedia records rs33986703 on the minus strand: (A;A), (A;T), (AA;AA), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other HBB SNPs
- rs11549407A;ABeta Thalassemia major; Hemoglobin beta-zeroVery important
- rs33945777T;TBeta Thalassemia major; Hemoglobin beta-zero; possibly transfusion dependentVery important
- rs33960103G;GBeta Thalassemia major; Hemoglobin beta-zero; possibly transfusion dependentVery important
- rs33971440T;TBeta Thalassemia major; Hemoglobin beta-zero; possibly transfusion dependentVery important
- rs33974936T;TBeta Thalassemia major; Hemoglobin beta-zeroVery important
- rs34716011T;TBeta Thalassemia major; Hemoglobin beta-zero; possibly transfusion dependentVery important
- rs34889882-;-Beta Thalassemia major; Hemoglobin beta-zero; possibly transfusion dependentVery important
- rs35497102-;-Beta Thalassemia major; Hemoglobin beta-zero; possibly transfusion dependentVery important
Notes
From SNPedia
Notes
aka c.52A>T (p.Lys18Ter), a beta-zero thalassemia mutation As noticed by OMIM, Krawczak et al. (2000) pointed out that this was the first single basepair substitution in a human gene underlying a genetic disorder to ever be reported (in ). beta 0 thalassemia, a nonsense mutation in man. Human gene mutation database-a biomedical information and research resource.
A;T
see discussion at HBB
A;A
see HBB
Source and license
Adapted from rs33986703 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.