rs9483788
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs9483788(C;C) |
| Make rs9483788(C;T) |
| Make rs9483788(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 135114363 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs9483788 |
| dbSNP (classic) | rs9483788 |
| ClinGen | rs9483788 |
| ebi | rs9483788 |
| HLI | rs9483788 |
| Exac | rs9483788 |
| Gnomad | rs9483788 |
| Varsome | rs9483788 |
| LitVar | rs9483788 |
| Map | rs9483788 |
| PheGenI | rs9483788 |
| Biobank | rs9483788 |
| 1000 genomes | rs9483788 |
| hgdp | rs9483788 |
| ensembl | rs9483788 |
| geneview | rs9483788 |
| scholar | rs9483788 |
| rs9483788 | |
| pharmgkb | rs9483788 |
| gwascentral | rs9483788 |
| openSNP | rs9483788 |
| 23andMe | rs9483788 |
| SNPshot | rs9483788 |
| SNPdbe | rs9483788 |
| MSV3d | rs9483788 |
| GWAS Ctlg | rs9483788 |
| GMAF | 0.2034 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 19862010 ]
|
| Trait | Hematocrit |
| Title | Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium |
| Risk Allele | C |
| P-val | 3E-15 |
| Odds Ratio | 0.22 [0.16-0.28] % increase |
[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 20401335] Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.
[PMID 25928412] Genetic association of fetal-hemoglobin levels in individuals with sickle cell disease in Tanzania maps to conserved regulatory elements within the MYB core enhancer
