rs33913413
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 3 | Beta Thalassemia carrier; Hemoglobin beta-plus mutation |
| (G;G) | 4.5 | Beta Thalassemia intermedia likely; Hemoglobin beta-plus; variable clinical symptoms |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 5225729 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33913413 |
| dbSNP (classic) | rs33913413 |
| ClinGen | rs33913413 |
| ebi | rs33913413 |
| HLI | rs33913413 |
| Exac | rs33913413 |
| Gnomad | rs33913413 |
| Varsome | rs33913413 |
| LitVar | rs33913413 |
| Map | rs33913413 |
| PheGenI | rs33913413 |
| Biobank | rs33913413 |
| 1000 genomes | rs33913413 |
| hgdp | rs33913413 |
| ensembl | rs33913413 |
| geneview | rs33913413 |
| scholar | rs33913413 |
| rs33913413 | |
| pharmgkb | rs33913413 |
| gwascentral | rs33913413 |
| openSNP | rs33913413 |
| 23andMe | rs33913413 |
| SNPshot | rs33913413 |
| SNPdbe | rs33913413 |
| MSV3d | rs33913413 |
| GWAS Ctlg | rs33913413 |
| Max Magnitude | 4.5 |
| ClinVar | |
|---|---|
| Risk | rs33913413(A;A) Rs33913413(G;G) rs33913413(T;T) |
| Alt | rs33913413(A;A) Rs33913413(G;G) rs33913413(T;T) |
| Reference | Rs33913413(C;C) |
| Significance | Pathogenic |
| Disease | Beta-plus-thalassemia Beta thalassemia intermedia |
| Variation | info |
| Gene | HBB |
| CLNDBN | Beta-plus-thalassemia Beta thalassemia intermedia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246959G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016709.26, RCV000029987.1, |
[PMID 1917531] Beta-thalassemia, HB S-beta-thalassemia and sickle cell anemia among Tunisians.
[PMID 2200760] Beta-thalassemia in Turkey.
[PMID 2458145] Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States.
[PMID 2920213] Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene.
[PMID 9140720] A significant beta-thalassemia heterogeneity in the United Arab Emirates.
[PMID 20437613] Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
[PMID 1634368] Three beta-thalassemia mutations in the Japanese: IVS-II-1 (G----A), IVS-II-848 (C----G), and codon 90 (GAG----TAG).
