rs8176719
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | likely to be of blood type O | |
| (-;G) | most likely to be of blood type A or B | |
| (G;G) | most likely to be of blood type A, B or AB |
| Reference | GRCh38 38.1/142 |
| Chromosome | 9 |
| Position | 133257521 |
| Gene | ABO |
| is a | snp |
| is | mentioned by |
| dbSNP | rs8176719 |
| dbSNP (classic) | rs8176719 |
| ClinGen | rs8176719 |
| ebi | rs8176719 |
| HLI | rs8176719 |
| Exac | rs8176719 |
| Gnomad | rs8176719 |
| Varsome | rs8176719 |
| LitVar | rs8176719 |
| Map | rs8176719 |
| PheGenI | rs8176719 |
| Biobank | rs8176719 |
| 1000 genomes | rs8176719 |
| hgdp | rs8176719 |
| ensembl | rs8176719 |
| geneview | rs8176719 |
| scholar | rs8176719 |
| rs8176719 | |
| pharmgkb | rs8176719 |
| gwascentral | rs8176719 |
| openSNP | rs8176719 |
| 23andMe | rs8176719 |
| SNPshot | rs8176719 |
| SNPdbe | rs8176719 |
| MSV3d | rs8176719 |
| GWAS Ctlg | rs8176719 |
| GMAF | 0.3489 |
| Max Magnitude | 0 |
rs8176719 represents a site in the ABO gene, often referred to as either c.261delG or, less commonly, c.260_262insG, and it is a key SNP in determining blood group type O status. [PMID 2333095]
An allele that encodes either a blood group type A or type B will have a (G) at this SNP site, i.e. such an allele will be rs8176719(G). If a one-base deletion has occured at this site, removing this nucleotide all together, the corresponding allele is considered to be rs8176719(-) and encodes the most common blood group type O allele. However, an individual will typically only be blood group type O if they are carry two copies of (are homozygous) for this deletion, in other words, if their genotype is rs8176719(-;-). If they carry one copy, they could be blood type A, or blood type B (but are unlikely to be type O). A person who is rs8176719(G;G) is likely to be of blood type A, B, or AB, but due to the existence of (rare) nonfunctional O alleles brought about by (nondeletional) mutations at other positions than rs8176719, they could at least theoretically still be phenotyped as type O.
The determination of blood group types A, B, and AB through SNP analysis is reflected in the appropriate genosets.
[PMID 18464913
] A genome-wide association study identifies protein quantitative trait loci (pQTLs).
[PMID 19169360] Histo-blood group gene polymorphisms as potential genetic modifiers of infection and cystic fibrosis lung disease severity.
[PMID 21257350] DNA-based methods in the immunohematology reference laboratory.
[PMID 21306478] ABO blood group alleles and the risk of pancreatic cancer in a Japanese population.
[PMID 21680535] ABO genotype and the risk of gastric cancer, atrophic gastritis, and Helicobacter pylori infection.
| GWAS snp | |
|---|---|
| PMID | [PMID 22672568]
|
| Trait | |
| Title | A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q. |
| Risk Allele | G |
| P-val | 6E-12 |
| Odds Ratio | 1.4700 None |
| GWAS snp | |
|---|---|
| PMID | [PMID 22895189] |
| Trait | Malaria |
| Title | Genome-wide association study indicates two novel resistance loci for severe malaria. |
| Risk Allele | G |
| P-val | 4E-21 |
| Odds Ratio | 1.48 [NR] |
[PMID 23734777] Lack of strong effect modification by NFE2L2/CYP3A5/ABO of the risk of venous thrombosis associated with oral hormone therapy.
[PMID 25210051] Genetic Variations Associated with Recurrent Venous Thrombosis
[PMID 29094466] Joint effects of prothrombotic genotypes and body height on the risk of venous thromboembolism: The Tromsø Study.
[PMID 30773804] Effect of prothrombotic genotypes on the risk of venous thromboembolism in patients with and without ischemic stroke.The TromsØ Study.
[PMID 32110755] Myocardial infarction, prothrombotic genotypes, and venous thrombosis risk: The Tromsø Study.
[PMID 32402998] Prothrombotic genotypes and risk of major bleeding in patients with incident venous thromboembolism.
[PMID 32671915] Combined effects of five prothrombotic genotypes and cancer on the risk of a first venous thromboembolic event.
