rs34750035
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (AG;AG) | 0 | common in clinvar |
| Make rs34750035(-;-) |
| Make rs34750035(-;AG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226572 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34750035 |
| dbSNP (classic) | rs34750035 |
| ClinGen | rs34750035 |
| ebi | rs34750035 |
| HLI | rs34750035 |
| Exac | rs34750035 |
| Gnomad | rs34750035 |
| Varsome | rs34750035 |
| LitVar | rs34750035 |
| Map | rs34750035 |
| PheGenI | rs34750035 |
| Biobank | rs34750035 |
| 1000 genomes | rs34750035 |
| hgdp | rs34750035 |
| ensembl | rs34750035 |
| geneview | rs34750035 |
| scholar | rs34750035 |
| rs34750035 | |
| pharmgkb | rs34750035 |
| gwascentral | rs34750035 |
| openSNP | rs34750035 |
| 23andMe | rs34750035 |
| SNPshot | rs34750035 |
| SNPdbe | rs34750035 |
| MSV3d | rs34750035 |
| GWAS Ctlg | rs34750035 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34750035(-;-) |
| Alt | rs34750035(-;-) |
| Reference | Rs34750035(AG;AG) |
| Significance | Pathogenic |
| Disease | Beta-thalassemia intermedia |
| Variation | info |
| Gene | HBB |
| CLNDBN | Beta-thalassemia intermedia, dominant |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247802_5247803delCT |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016779.26, |
[PMID 1634236] Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of beta-thalassaemia in the Portuguese population.
