rs34451549

A SNP in the HBB gene on chromosome 11. Its most notable genotype is A;A: Beta Thalassemia intermedia likely; Hemoglobin beta-plus; variable clinical symptoms

Gene
HBB
Location
Chr 115,225,923 (GRCh38)
Highest magnitude
4.5Very important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodNormalTypical · 0.0
  2. A;GBadBeta Thalassemia carrier; Hemoglobin beta-plus mutationImportant · 3.0
  3. A;AMost notableBadBeta Thalassemia intermedia likely; Hemoglobin beta-plus; variable clinical symptomsVery important · 4.5

SNPedia records rs34451549 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 120 words

Beta Thalassemia https://www.23andme.com/you/journal/beta_thalassemia/techreport/ A new frameshift beta zero-thalassemia mutation (codons 27-28 +C) found in a Chinese family. The spectrum of beta-thalassemia mutations in Taiwan: identification of a novel frameshift mutation. The spectrum of beta-thalassemia genes in China and Southeast Asia. beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. Molecular basis and haematological characterization of beta-thalassaemia major in Taiwan, with a mutation of IVS-1 3' end TAG-->GAG in a Chinese patient.

A;G

Unaffected in absence of a second HBB gene mutation; see discussion at HBB

A;A

see HBB

Source and license

Adapted from rs34451549 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.