Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

HBB

hemoglobin subunit beta

Chromosome
11
Cytoband
11p15.4
Variants (rsID)
70

HBB is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11p15.4). Its official name is “hemoglobin subunit beta”. The reference table lists 70 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

66 reference-table entries with clinical significance.

  • rs7946748Benignsingle nucleotide variantbeta Thalassemia
  • rs33930165Conflicting interpretationssingle nucleotide variantHEMOGLOBIN C|Malaria, resistance to|Hb SS disease|beta Thalassemia|9 conditions|Heinz body anemia|Beta-thalassemia HBB/LCRB
  • rs33947415Conflicting interpretationssingle nucleotide variantHEMOGLOBIN 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
  • rs35724775Conflicting interpretationssingle nucleotide variantBeta-plus-thalassemia|beta Thalassemia|9 conditions|Hb SS disease|Fetal hemoglobin quantitative trait locus 1|Hemoglobin E|Heinz body anemia
  • rs34387455Likely benignsingle nucleotide variantHEMOGLOBIN G (SAN JOSE)
  • rs35456885Likely benignsingle nucleotide variant
  • rs34218908Likely pathogenicDeletionbeta Thalassemia
  • rs35939430Likely pathogenicsingle nucleotide variantHEMOGLOBIN CRETE|beta Thalassemia
  • rs63750283Likely pathogenicsingle nucleotide variantbeta Thalassemia
  • rs334Othersingle nucleotide variantHEMOGLOBIN G (MAKASSAR)
  • rs33919821Othersingle nucleotide variantHEMOGLOBIN BROCKTON
  • rs34151786Othersingle nucleotide variantHEMOGLOBIN J (EUROPA)
  • rs34404985Othersingle nucleotide variantHEMOGLOBIN G (TAIWAN-AMI)
  • rs11549407Pathogenicsingle nucleotide variantBeta zero thalassemia|beta Thalassemia|9 conditions|Hb SS disease|alpha Thalassemia|Heinz body anemia|Beta-thalassemia HBB/LCRB
  • rs33913413Pathogenicsingle nucleotide variantBeta-plus-thalassemia|Beta thalassemia intermedia|beta Thalassemia
  • rs33914668Pathogenicsingle nucleotide variantBeta zero thalassemia|beta Thalassemia|Beta-thalassemia major
  • rs33915217Pathogenicsingle nucleotide variantBeta-plus-thalassemia|beta Thalassemia|9 conditions|Hb SS disease|Beta-thalassemia major|Beta-thalassemia HBB/LCRB
  • rs33931746Pathogenicsingle nucleotide variantBeta-plus-thalassemia|beta Thalassemia|Hb SS disease
  • rs33941849Pathogenicsingle nucleotide variantBeta zero thalassemia|beta Thalassemia|Hb SS disease
  • rs33943001Pathogenicsingle nucleotide variantBeta zero thalassemia|beta Thalassemia
  • rs33944208Pathogenicsingle nucleotide variantBeta-plus-thalassemia|beta Thalassemia|Hemoglobinopathy
  • rs33950507Pathogenicsingle nucleotide variantHemoglobin E|Beta-plus-thalassemia|Hemoglobin E/beta thalassemia disease|Malaria, resistance to|Hb SS disease|beta Thalassemia|Hemoglobin E disease|Anemia|9 conditions|Beta-thalassemia HBB/LCRB
  • rs33951465Pathogenicsingle nucleotide variantBeta-plus-thalassemia|beta Thalassemia|Hb SS disease
  • rs33952266Pathogenicsingle nucleotide variantBeta zero thalassemia|beta Thalassemia
  • rs33956879Pathogenicsingle nucleotide variantbeta Thalassemia
  • rs33960103Pathogenicsingle nucleotide variantbeta Thalassemia|Hb SS disease|Beta-thalassemia major
  • rs33969677Pathogenicsingle nucleotide variantHEMOGLOBIN JOHNSTOWN
  • rs33971440Pathogenicsingle nucleotide variantBeta zero thalassemia|beta Thalassemia|9 conditions|Hb SS disease|Fetal hemoglobin quantitative trait locus 1|Beta-thalassemia HBB/LCRB
  • rs33972047Pathogenicsingle nucleotide variantHEMOGLOBIN MALAY|Beta-plus-thalassemia|Beta-Malay-thalassemia|beta Thalassemia
  • rs33974936Pathogenicsingle nucleotide variantBeta zero thalassemia|beta Thalassemia|Hemoglobinopathy
  • rs33978907Pathogenicsingle nucleotide variantBeta-plus-thalassemia
  • rs33980857Pathogenicsingle nucleotide variantBeta-plus-thalassemia|beta Thalassemia
  • rs33981098Pathogenicsingle nucleotide variantBeta-plus-thalassemia|beta Thalassemia|Beta thalassemia intermedia
  • rs33985472Pathogenicsingle nucleotide variantBeta-plus-thalassemia|beta Thalassemia
  • rs33986703Pathogenicsingle nucleotide variantBeta zero thalassemia|beta Thalassemia|9 conditions|Hb SS disease|Beta-thalassemia HBB/LCRB
  • rs33994806Pathogenicsingle nucleotide variantBeta-plus-thalassemia|beta Thalassemia
  • rs34282684PathogenicDeletionbeta Thalassemia
  • rs34305195Pathogenicsingle nucleotide variantbeta Thalassemia|Beta-plus-thalassemia
  • rs34451549Pathogenicsingle nucleotide variantBeta zero thalassemia|beta Thalassemia|Beta-thalassemia major|Hb SS disease
  • rs34502690PathogenicDeletionBeta-plus-thalassemia
  • rs34563000Pathogenicsingle nucleotide variantHemoglobinopathy|beta Thalassemia
  • rs34598529Pathogenicsingle nucleotide variantBeta-plus-thalassemia|beta Thalassemia|9 conditions|Heinz body anemia
  • rs34690599Pathogenicsingle nucleotide variantBeta-plus-thalassemia|beta Thalassemia|9 conditions|Hb SS disease|Dominant beta-thalassemia|Beta-thalassemia HBB/LCRB
  • rs34704828Pathogenicsingle nucleotide variantbeta Thalassemia|Hemoglobinopathy
  • rs34716011Pathogenicsingle nucleotide variantbeta Thalassemia
  • rs34856846PathogenicDeletionBeta zero thalassemia|Hemoglobinopathy|beta Thalassemia
  • rs34889882PathogenicDeletionBeta zero thalassemia|beta Thalassemia|Hb SS disease|9 conditions
  • rs34999973Pathogenicsingle nucleotide variantBeta-plus-thalassemia|beta Thalassemia|Beta thalassemia intermedia|HBB-Related Disorders|Beta-thalassemia HBB/LCRB
  • rs35004220Pathogenicsingle nucleotide variantBeta-plus-thalassemia|beta Thalassemia|Beta-thalassemia major|9 conditions|Hb SS disease|Fetal hemoglobin quantitative trait locus 1|Beta-thalassemia HBB/LCRB
  • rs35256489Pathogenicsingle nucleotide variantHEMOGLOBIN SHOWA-YAKUSHIJI|Beta-plus-thalassemia|Beta-Showa-Yakushiji thalassemia|beta Thalassemia|Hb SS disease
  • rs35328027Pathogenicsingle nucleotide variantBeta-plus-thalassemia|beta Thalassemia
  • rs35424040Pathogenicsingle nucleotide variantHEMOGLOBIN KNOSSOS|Beta-plus-thalassemia|Beta-Knossos-thalassemia|beta Thalassemia|Hemoglobinopathy|Hb SS disease
  • rs35497102PathogenicDeletionBeta zero thalassemia|beta Thalassemia|Hb SS disease|Beta-thalassemia HBB/LCRB
  • rs35662066PathogenicDeletionBeta zero thalassemia|beta Thalassemia|Hemoglobinopathy
  • rs35703285Pathogenicsingle nucleotide variantbeta Thalassemia
  • rs63749819PathogenicDeletionBeta zero thalassemia|beta Thalassemia|Hb SS disease
  • rs63750128PathogenicDeletionbeta Thalassemia|Hemoglobinopathy
  • rs63750475PathogenicDeletionBeta zero thalassemia|beta Thalassemia
  • rs63750513Pathogenicsingle nucleotide variantBeta zero thalassemia|beta Thalassemia
  • rs63750532PathogenicDeletionBeta zero thalassemia|Hemoglobinopathy|Hb SS disease|beta Thalassemia
  • rs63750783Pathogenicsingle nucleotide variantBeta zero thalassemia|beta Thalassemia|Hb SS disease
  • rs63751128Pathogenicsingle nucleotide variantBeta-plus-thalassemia|beta Thalassemia|Hemoglobinopathy
  • rs63751208Pathogenicsingle nucleotide variantBeta-plus-thalassemia|beta Thalassemia
  • rs80356820PathogenicDeletionBeta zero thalassemia|beta Thalassemia|Dominant beta-thalassemia
  • rs33913712Uncertain significancesingle nucleotide variantHEMOGLOBIN AGENOGI|beta Thalassemia
  • rs33974228Uncertain significancesingle nucleotide variantHEMOGLOBIN HAMILTON|beta Thalassemia|Fetal hemoglobin quantitative trait locus 1|Hb SS disease|Hemoglobin E

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.