rs33941377
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 4.5 | Beta Thalassemia intermedia likely; Hemoglobin beta-plus; variable clinical symptoms |
| (A;C) | 3 | Beta Thalassemia carrier; Hemoglobin beta-plus mutation |
| (C;C) | 0 | common in complete genomics |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5227158 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33941377 |
| dbSNP (classic) | rs33941377 |
| ClinGen | rs33941377 |
| ebi | rs33941377 |
| HLI | rs33941377 |
| Exac | rs33941377 |
| Gnomad | rs33941377 |
| Varsome | rs33941377 |
| LitVar | rs33941377 |
| Map | rs33941377 |
| PheGenI | rs33941377 |
| Biobank | rs33941377 |
| 1000 genomes | rs33941377 |
| hgdp | rs33941377 |
| ensembl | rs33941377 |
| geneview | rs33941377 |
| scholar | rs33941377 |
| rs33941377 | |
| pharmgkb | rs33941377 |
| gwascentral | rs33941377 |
| openSNP | rs33941377 |
| 23andMe | rs33941377 |
| SNPshot | rs33941377 |
| SNPdbe | rs33941377 |
| MSV3d | rs33941377 |
| GWAS Ctlg | rs33941377 |
| Max Magnitude | 4.5 |
| ClinVar | |
|---|---|
| Risk | Rs33941377(A;A) rs33941377(G;G) rs33941377(T;T) |
| Alt | Rs33941377(A;A) rs33941377(G;G) rs33941377(T;T) |
| Reference | Rs33941377(C;C) |
| Significance | Pathogenic |
| Disease | Beta thalassemia intermedia Beta Thalassemia Beta-plus-thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | Beta thalassemia intermedia beta Thalassemia Beta-plus-thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248388G>A; NC_000011.9:g.5248388G>C; NC_000011.9:g.5248388G>T |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000029952.1, RCV000445650.1, RCV000016722.26, RCV000029951.1, RCV000445653.1, RCV000029950.1, RCV000445644.1, |
[PMID 1428943] The -87 (C----A) beta(+)-thalassemia mutation in a black family.
[PMID 2375912] The homozygous state for the -87 C----G beta + thalassaemia.
[PMID 2446680] Mild and severe beta-thalassemia among homozygotes from Turkey: identification of the types by hybridization of amplified DNA with synthetic probes.
[PMID 6188062] Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes.
[PMID 7507641] Mild beta+(-87)-thalassemia CACCC box mutation is associated with elevated fetal hemoglobin expression in cis.
[PMID 7655036] HLA-DR frequency in Turkish aplastic anemia patients and the impact of HLA-DR2 positivity in response rate in patients receiving immunosuppressive therapy.
[PMID 2018842] Thalassemia intermedia: moderate reduction of beta globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element.
