rs56392308
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | A2 alleles (a subtype of the ABO Type A blood group) | |
| (-;C) | One A2 allele (a subtype of the ABO Type A blood group) | |
| (C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 133255670 |
| Gene | ABO |
| is a | snp |
| is | mentioned by |
| dbSNP | rs56392308 |
| dbSNP (classic) | rs56392308 |
| ClinGen | rs56392308 |
| ebi | rs56392308 |
| HLI | rs56392308 |
| Exac | rs56392308 |
| Gnomad | rs56392308 |
| Varsome | rs56392308 |
| LitVar | rs56392308 |
| Map | rs56392308 |
| PheGenI | rs56392308 |
| Biobank | rs56392308 |
| 1000 genomes | rs56392308 |
| hgdp | rs56392308 |
| ensembl | rs56392308 |
| geneview | rs56392308 |
| scholar | rs56392308 |
| rs56392308 | |
| pharmgkb | rs56392308 |
| gwascentral | rs56392308 |
| openSNP | rs56392308 |
| 23andMe | rs56392308 |
| SNPshot | rs56392308 |
| SNPdbe | rs56392308 |
| MSV3d | rs56392308 |
| GWAS Ctlg | rs56392308 |
| Merged from | Rs8176750 |
| Max Magnitude | 0 |
rs56392308 is a SNP for the A2 ABO blood group according to the List of targets and recommended controls for prediction of certain RBC antigens in the Consortium for Blood Group Genes (CBGG): 2009 report.
The A2 allele (a minor subtype of A) is associated with rs56392308(-), the deletion allele.[PMID 1520322]
| ClinVar | |
|---|---|
| Risk | Rs56392308(-;-) |
| Alt | Rs56392308(-;-) |
| Reference | Rs56392308(C;C) |
| Significance | Other |
| Disease | ABO blood group system |
| Variation | info |
| Gene | ABO |
| CLNDBN | ABO blood group system |
| Reversed | 1 |
| HGVS | NC_000009.11:g.136131057delG |
| CLNSRC | OMIM Allelic Variant dbRBC - Blood Group Antigen Gene Mutation Database |
| CLNACC | RCV000019311.29, |
