rs34883338
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs34883338(C;T) |
| Make rs34883338(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5227163 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34883338 |
| dbSNP (classic) | rs34883338 |
| ClinGen | rs34883338 |
| ebi | rs34883338 |
| HLI | rs34883338 |
| Exac | rs34883338 |
| Gnomad | rs34883338 |
| Varsome | rs34883338 |
| LitVar | rs34883338 |
| Map | rs34883338 |
| PheGenI | rs34883338 |
| Biobank | rs34883338 |
| 1000 genomes | rs34883338 |
| hgdp | rs34883338 |
| ensembl | rs34883338 |
| geneview | rs34883338 |
| scholar | rs34883338 |
| rs34883338 | |
| pharmgkb | rs34883338 |
| gwascentral | rs34883338 |
| openSNP | rs34883338 |
| 23andMe | rs34883338 |
| SNPshot | rs34883338 |
| SNPdbe | rs34883338 |
| MSV3d | rs34883338 |
| GWAS Ctlg | rs34883338 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34883338(T;T) |
| Alt | rs34883338(T;T) |
| Reference | Rs34883338(C;C) |
| Significance | Pathogenic |
| Disease | Beta-plus-thalassemia Beta Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | Beta-plus-thalassemia beta Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248393G>A |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016720.26, RCV000445639.1, |
[PMID 2197725] The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990.
[PMID 7794779] A promoter mutation, C-->T at position -92, leading to silent beta-thalassaemia.
[PMID 8438884] A mild type of Hb S-beta(+)-thalassemia [-92(C-->T)] in a Sicilian family.
