rs9389269
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs9389269(C;C) |
| Make rs9389269(C;T) |
| Make rs9389269(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 135106021 |
| Gene | LOC105378010 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs9389269 |
| dbSNP (classic) | rs9389269 |
| ClinGen | rs9389269 |
| ebi | rs9389269 |
| HLI | rs9389269 |
| Exac | rs9389269 |
| Gnomad | rs9389269 |
| Varsome | rs9389269 |
| LitVar | rs9389269 |
| Map | rs9389269 |
| PheGenI | rs9389269 |
| Biobank | rs9389269 |
| 1000 genomes | rs9389269 |
| hgdp | rs9389269 |
| ensembl | rs9389269 |
| geneview | rs9389269 |
| scholar | rs9389269 |
| rs9389269 | |
| pharmgkb | rs9389269 |
| gwascentral | rs9389269 |
| openSNP | rs9389269 |
| 23andMe | rs9389269 |
| SNPshot | rs9389269 |
| SNPdbe | rs9389269 |
| MSV3d | rs9389269 |
| GWAS Ctlg | rs9389269 |
| GMAF | 0.2231 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 23222517 ]
|
| Trait | Red blood cell traits |
| Title | Seventy-five genetic loci influencing the human red blood cell. |
| Risk Allele | T |
| P-val | 3E-19 |
| Odds Ratio | .60 [0.55-0.65] unit decrease |
[PMID 17592125] Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults.
[PMID 18245381] Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
[PMID 19148297] Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients.
[PMID 20401335] Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.
