Gene entry
ABO
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
- Chromosome
- 9
- Cytoband
- 9q34.2
- Variants (rsID)
- 88
ABO is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9q34.2). Its official name is “ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase”. The reference table lists 88 variants (rsID) for this gene.
Clinically classified variants
9 reference-table entries with clinical significance.
- rs1053878Othersingle nucleotide variantThrombosis|Ovarian Cancer
- rs56392308OtherDeletionABO blood group system
- rs512770Not classifiedmissense_variant
- rs7853989Not classifiedmissense_variantThrombophilia Due to Thrombin Defect|Factor Viii Deficiency|Hemophilia a|Hemophilia
- rs8176719Not classifiedsplice_acceptor_variant&splice_donor_variant&intron_variantThrombophilia Due to Thrombin Defect|Thrombosis|Myocardial Infarction|Migraine with or Without Aura 1|Severe Covid-19|Leukemia|Leukemia, Acute Lymphoblastic|Helicobacter Pylori Infection|Hypercholesterolemia, Familial, 1|Coumarin Resistance|Pancreatic Cancer|Body Mass Index Quantitative Trait Locus 11|Respiratory Failure|Adult Respiratory Distress Syndrome|Body Mass Index Quantitative Trait Locus 18|Body Mass Index Quantitative Trait Locus 19|Familial Hypercholesterolemia|Body Mass Index Quantitative Trait Locus 10
- rs8176720Not classifiedsynonymous_variantThyroid Hyalinizing Trabecular Adenoma
- rs8176741Not classifiedsynonymous_variant
- rs8176743Not classifiedmissense_variantThrombophilia Due to Thrombin Defect|Thrombosis
- rs8176746Not classifiedmissense_variantMalaria|Plasmodium Falciparum Malaria|Pancreatic Cancer|Helicobacter Pylori Infection|Hypercholesterolemia, Familial, 1|Hypertension, Essential|Prostate Cancer|Adult Respiratory Distress Syndrome|Heart Disease|Thrombosis|Familial Hypercholesterolemia|Mental Depression|Hypercholesterolemia, Familial, 3|Major Depressive Disorder|Gastric Cancer|Microcephaly 1, Primary, Autosomal Recessive|Enterocolitis|Autoinflammation with Infantile Enterocolitis
Other listed variants
- rs474279
- rs495203
- rs505922
- rs507666
- rs514708
- rs529565
- rs545971
- rs550057
- rs582094
- rs630014
- rs644234
- rs657152
- rs672316
- rs674302
- rs687289
- rs687621
- rs2769071
- rs4962040
- rs7466899
- rs7873522
- rs8176645
- rs8176682
- rs8176688
- rs8176692
- rs8176693
- rs8176694
- rs8176696
- rs8176704
- rs8176705
- rs8176721
- rs8176722
- rs8176732
- rs8176733
- rs8176734
- rs8176738
- rs8176739
- rs8176740
- rs8176742
- rs8176744
- rs8176745
- rs9411372
- rs35494115
- rs41302905
- rs55658842
- rs55727303
- rs55764262
- rs55876802
- rs55917063
- rs56116432
- rs56335272
- rs56390333
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.