rs33945777
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5.5 | Beta Thalassemia major; Hemoglobin beta-zero; possibly transfusion dependent |
| (A;G) | 3 | Beta Thalassemia carrier; Hemoglobin beta-zero mutation; anemia possible |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 5226576 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33945777 |
| dbSNP (classic) | rs33945777 |
| ClinGen | rs33945777 |
| ebi | rs33945777 |
| HLI | rs33945777 |
| Exac | rs33945777 |
| Gnomad | rs33945777 |
| Varsome | rs33945777 |
| LitVar | rs33945777 |
| Map | rs33945777 |
| PheGenI | rs33945777 |
| Biobank | rs33945777 |
| 1000 genomes | rs33945777 |
| hgdp | rs33945777 |
| ensembl | rs33945777 |
| geneview | rs33945777 |
| scholar | rs33945777 |
| rs33945777 | |
| pharmgkb | rs33945777 |
| gwascentral | rs33945777 |
| openSNP | rs33945777 |
| 23andMe | rs33945777 |
| SNPshot | rs33945777 |
| SNPdbe | rs33945777 |
| MSV3d | rs33945777 |
| GWAS Ctlg | rs33945777 |
| Max Magnitude | 5.5 |
| ClinVar | |
|---|---|
| Risk | Rs33945777(A;A) rs33945777(C;C) rs33945777(T;T) |
| Alt | Rs33945777(A;A) rs33945777(C;C) rs33945777(T;T) |
| Reference | Rs33945777(G;G) |
| Significance | Pathogenic |
| Disease | Beta Thalassemia beta^0^ Thalassemia not provided |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta Thalassemia beta^0^ Thalassemia not provided |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247806C>G; NC_000011.9:g.5247806C>T |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000169544.1, RCV000016696.26, RCV000020332.2, RCV000255349.1, |
[PMID 1634368] Three beta-thalassemia mutations in the Japanese: IVS-II-1 (G----A), IVS-II-848 (C----G), and codon 90 (GAG----TAG).
[PMID 1702403] Intrinsic potential for high fetal hemoglobin production in a Druz family with beta-thalassemia is due to an unlinked genetic determinant.
[PMID 2200760] Beta-thalassemia in Turkey.
[PMID 3462712
] On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups.
[PMID 6188062] Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes.
[PMID 7151176] A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing.
[PMID 7504400] Polymorphic pattern of the (AT)X(T)Y motif at -530 5' to the beta-globin gene in over 40 patients homozygous for various beta-thalassemia mutations.
[PMID 8718703] Molecular analyses of beta-thalassemia in Iran.
