rs34451549
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | Normal |
| (C;T) | 3 | Beta Thalassemia carrier; Hemoglobin beta-plus mutation |
| (T;T) | 4.5 | Beta Thalassemia intermedia likely; Hemoglobin beta-plus; variable clinical symptoms |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225923 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34451549 |
| dbSNP (classic) | rs34451549 |
| ClinGen | rs34451549 |
| ebi | rs34451549 |
| HLI | rs34451549 |
| Exac | rs34451549 |
| Gnomad | rs34451549 |
| Varsome | rs34451549 |
| LitVar | rs34451549 |
| Map | rs34451549 |
| PheGenI | rs34451549 |
| Biobank | rs34451549 |
| 1000 genomes | rs34451549 |
| hgdp | rs34451549 |
| ensembl | rs34451549 |
| geneview | rs34451549 |
| scholar | rs34451549 |
| rs34451549 | |
| pharmgkb | rs34451549 |
| gwascentral | rs34451549 |
| openSNP | rs34451549 |
| 23andMe | rs34451549 |
| SNPshot | rs34451549 |
| SNPdbe | rs34451549 |
| MSV3d | rs34451549 |
| GWAS Ctlg | rs34451549 |
| Max Magnitude | 4.5 |
Beta Thalassemia https://www.23andme.com/you/journal/beta_thalassemia/techreport/
| ClinVar | |
|---|---|
| Risk | Rs34451549(T;T) |
| Alt | Rs34451549(T;T) |
| Reference | Rs34451549(C;C) |
| Significance | Pathogenic |
| Disease | beta^0^ Thalassemia Beta Thalassemia Beta thalassemia major |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta^0^ Thalassemia beta Thalassemia Beta thalassemia major |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247153G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016716.27, RCV000020334.2, RCV000029984.1, |
[PMID 1850955] A new frameshift beta zero-thalassemia mutation (codons 27-28 +C) found in a Chinese family.
[PMID 2014803
] The spectrum of beta-thalassemia mutations in Taiwan: identification of a novel frameshift mutation.
[PMID 2875755] The spectrum of beta-thalassemia genes in China and Southeast Asia.
[PMID 6585831] beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects.
[PMID 8435318] Molecular basis and haematological characterization of beta-thalassaemia major in Taiwan, with a mutation of IVS-1 3' end TAG-->GAG in a Chinese patient.
