rs34690599
A SNP in the HBB gene on chromosome 11. Its most notable genotype is C;C: Beta Thalassemia intermedia likely; Hemoglobin beta-plus; variable clinical symptoms
- Gene
- HBB
- Location
- Chr 115,225,832 (GRCh38)
- Highest magnitude
- 4.5Very important
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- C;GBadBeta Thalassemia carrier; Hemoglobin beta-plus mutation
- C;CMost notableBadBeta Thalassemia intermedia likely; Hemoglobin beta-plus; variable clinical symptoms
SNPedia records rs34690599 on the minus strand: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
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
- rs33986703A;ABeta Thalassemia major; Hemoglobin beta-zero; possibly transfusion dependentVery important
- rs34716011T;TBeta Thalassemia major; Hemoglobin beta-zero; possibly transfusion dependentVery important
- rs34889882-;-Beta Thalassemia major; Hemoglobin beta-zero; possibly transfusion dependentVery important
Notes
From SNPedia
Show notes, about 120 words
Beta Thalassemia https://www.23andme.com/you/journal/beta_thalassemia/techreport/ The beta-thalassaemia mutations in the population of Cyprus. Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of beta-thalassaemia in the Portuguese population. Molecular basis of beta-thalassemia in Turkey: detection of rare mutations by direct sequencing. The peculiar spectrum of beta-thalassemia genes in Tunisia. beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site. Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of beta-thalassemia.
C;G
Unaffected in absence of a second HBB gene mutation; see discussion at HBB
C;C
see HBB
Source and license
Adapted from rs34690599 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.