rs1008708453
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2 | O2 alleles (ABO Type O) may be present |
| (A;C) | 2 | O2 ABO (type O) allele may be present |
| Make rs1008708453(C;C) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 9 |
| Position | 133262144 |
| Gene | ABO |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1008708453 |
| dbSNP (classic) | rs1008708453 |
| ClinGen | rs1008708453 |
| ebi | rs1008708453 |
| HLI | rs1008708453 |
| Exac | rs1008708453 |
| Gnomad | rs1008708453 |
| Varsome | rs1008708453 |
| LitVar | rs1008708453 |
| Map | rs1008708453 |
| PheGenI | rs1008708453 |
| Biobank | rs1008708453 |
| 1000 genomes | rs1008708453 |
| hgdp | rs1008708453 |
| ensembl | rs1008708453 |
| geneview | rs1008708453 |
| scholar | rs1008708453 |
| rs1008708453 | |
| pharmgkb | rs1008708453 |
| gwascentral | rs1008708453 |
| openSNP | rs1008708453 |
| 23andMe | rs1008708453 |
| SNPshot | rs1008708453 |
| SNPdbe | rs1008708453 |
| MSV3d | rs1008708453 |
| GWAS Ctlg | rs1008708453 |
| Max Magnitude | 2 |
ABO gene variant, known more commonly as c.53G>T or p.Arg18Leu.
The rs1008708453(A) allele, as represented in dbSNP (and SNPedia) on the forward/plus strand, is reported to be completely correlated to a subtype of O type alleles known as the O2 group. These O alleles may lack the c.261delG allele that is associated with the majority of O alleles.[PMID 11155073]
Note that at this position, there is another variant, c.53G>A (p.Arg18Gln), which is not reported to have any particular ABO allelic association as far as we know.
