rs33915217
A SNP in the HBB gene on chromosome 11. Its most notable genotype is C;G: Carrier of a beta-thalassemia mutation
- Gene
- HBB
- Location
- Chr 115,226,925 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs33915217 on the minus strand: (C;G), (G;G). 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
- 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 160 words
aka c.92+5G>A Hb Monroe or alpha 2 beta 230(B12)Arg----Thr, a variant associated with beta-thalassemia due to A G----C substitution adjacent to the donor splice site of the first intron. Beta thalassemia due to a novel mutation in IVS 1 sequence donor site consensus sequence creating a restriction site. Expression of a beta thalassemia gene with abnormal splicing. Beta-thalassaemia in Cubans: novel allele increases the genetic diversity at the HBB locus in the Caribbean. Intrinsic differences between authentic and cryptic 5' splice sites. ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of beta-thalassaemia. A new mutation in IVS-1 of the human beta globin gene causing beta thalassemia due to abnormal splicing. The molecular basis of beta thalassaemia in Bulgaria. Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene.
C;G
Unaffected in absence of a second HBB gene mutation
Source and license
Adapted from rs33915217 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.