rs34889882
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 5.5 | Beta Thalassemia major; Hemoglobin beta-zero; possibly transfusion dependent |
| (-;CT) | 3 | Beta Thalassemia carrier; Hemoglobin beta-zero mutation; anemia possible |
| (CT;CT) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5227004 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34889882 |
| dbSNP (classic) | rs34889882 |
| ClinGen | rs34889882 |
| ebi | rs34889882 |
| HLI | rs34889882 |
| Exac | rs34889882 |
| Gnomad | rs34889882 |
| Varsome | rs34889882 |
| LitVar | rs34889882 |
| Map | rs34889882 |
| PheGenI | rs34889882 |
| Biobank | rs34889882 |
| 1000 genomes | rs34889882 |
| hgdp | rs34889882 |
| ensembl | rs34889882 |
| geneview | rs34889882 |
| scholar | rs34889882 |
| rs34889882 | |
| pharmgkb | rs34889882 |
| gwascentral | rs34889882 |
| openSNP | rs34889882 |
| 23andMe | rs34889882 |
| SNPshot | rs34889882 |
| SNPdbe | rs34889882 |
| MSV3d | rs34889882 |
| GWAS Ctlg | rs34889882 |
| Max Magnitude | 5.5 |
| ClinVar | |
|---|---|
| Risk | Rs34889882(-;-) |
| Alt | Rs34889882(-;-) |
| Reference | Rs34889882(CT;CT) |
| Significance | Pathogenic |
| Disease | beta^0^ Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta^0^ Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248234_5248235delAG |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016678.26, |
