rs28384513
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs28384513(A;C) |
| Make rs28384513(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 135055071 |
| Gene | HBS1L |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28384513 |
| dbSNP (classic) | rs28384513 |
| ClinGen | rs28384513 |
| ebi | rs28384513 |
| HLI | rs28384513 |
| Exac | rs28384513 |
| Gnomad | rs28384513 |
| Varsome | rs28384513 |
| LitVar | rs28384513 |
| Map | rs28384513 |
| PheGenI | rs28384513 |
| Biobank | rs28384513 |
| 1000 genomes | rs28384513 |
| hgdp | rs28384513 |
| ensembl | rs28384513 |
| geneview | rs28384513 |
| scholar | rs28384513 |
| rs28384513 | |
| pharmgkb | rs28384513 |
| gwascentral | rs28384513 |
| openSNP | rs28384513 |
| 23andMe | rs28384513 |
| SNPshot | rs28384513 |
| SNPdbe | rs28384513 |
| MSV3d | rs28384513 |
| GWAS Ctlg | rs28384513 |
| GMAF | 0.2893 |
| Max Magnitude | 0 |
[PMID 20472475] The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients
[PMID 18667698
] DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease.
[PMID 18695233] Genetic complexity in sickle cell disease.
[PMID 20401335] Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.
| ClinVar | |
|---|---|
| Risk | rs28384513(C;C) |
| Alt | rs28384513(C;C) |
| Reference | Rs28384513(A;A) |
| Significance | Unknown |
| Disease | not provided |
| Variation | info |
| Gene | HBS1L |
| CLNDBN | not provided |
| Reversed | 1 |
| HGVS | NC_000006.11:g.135376209T>G |
| CLNSRC | ClinVar |
| CLNACC | RCV000115063.1, |
[PMID 25806420] Genetic Modifiers of Sickle Cell Disease: A Genotype-Phenotype Relationship Study in a Cohort of 82 Children on Mayotte Island
