rs7482144
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs7482144(A;A) |
| Make rs7482144(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5250015 |
| Gene | HBG1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7482144 |
| dbSNP (classic) | rs7482144 |
| ClinGen | rs7482144 |
| ebi | rs7482144 |
| HLI | rs7482144 |
| Exac | rs7482144 |
| Gnomad | rs7482144 |
| Varsome | rs7482144 |
| LitVar | rs7482144 |
| Map | rs7482144 |
| PheGenI | rs7482144 |
| Biobank | rs7482144 |
| 1000 genomes | rs7482144 |
| hgdp | rs7482144 |
| ensembl | rs7482144 |
| geneview | rs7482144 |
| scholar | rs7482144 |
| rs7482144 | |
| pharmgkb | rs7482144 |
| gwascentral | rs7482144 |
| openSNP | rs7482144 |
| 23andMe | rs7482144 |
| SNPshot | rs7482144 |
| SNPdbe | rs7482144 |
| MSV3d | rs7482144 |
| GWAS Ctlg | rs7482144 |
| GMAF | 0.1685 |
| 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 18194558
] A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples.
[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 19148297] Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients.
[PMID 20353593] Genetic modifiers of Hb E/beta0 thalassemia identified by a two-stage genome-wide association study.
[PMID 20401335] Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.
[PMID 25651163] Genetics of fetal hemoglobin in tribal Indian patients with sickle cell anemia
| ClinVar | |
|---|---|
| Risk | rs7482144(A;A) |
| Alt | rs7482144(A;A) |
| Reference | Rs7482144(G;G) |
| Significance | Unknown |
| Disease | Fetal hemoglobin quantitative trait locus 1 |
| Variation | info |
| Gene | HBG1 |
| CLNDBN | Fetal hemoglobin quantitative trait locus 1 |
| Reversed | 0 |
| HGVS | NC_000011.9:g.5276169G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016124.2, |
[PMID 29313433] Hb F Levels in Indian Sickle Cell Patients and Association with the HBB Locus Variant rs10128556 (C>T), and the HBG XmnI (Arab-Indian) Variant.
[PMID 32387854] The association of HBG2, BCL11A, and HBS1L-MYB polymorphisms to thalidomide response in Chinese β-thalassemia patients.
