rs34937014
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (;) | 0 | common in clinvar |
| (-;-) | 0 | common in complete genomics |
| Make rs34937014(-;A) |
| Make rs34937014(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226604 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34937014 |
| dbSNP (classic) | rs34937014 |
| ClinGen | rs34937014 |
| ebi | rs34937014 |
| HLI | rs34937014 |
| Exac | rs34937014 |
| Gnomad | rs34937014 |
| Varsome | rs34937014 |
| LitVar | rs34937014 |
| Map | rs34937014 |
| PheGenI | rs34937014 |
| Biobank | rs34937014 |
| 1000 genomes | rs34937014 |
| hgdp | rs34937014 |
| ensembl | rs34937014 |
| geneview | rs34937014 |
| scholar | rs34937014 |
| rs34937014 | |
| pharmgkb | rs34937014 |
| gwascentral | rs34937014 |
| openSNP | rs34937014 |
| 23andMe | rs34937014 |
| SNPshot | rs34937014 |
| SNPdbe | rs34937014 |
| MSV3d | rs34937014 |
| GWAS Ctlg | rs34937014 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34937014(A;A) |
| Alt | rs34937014(A;A) |
| Reference | Rs34937014(-;-) |
| Significance | Probable-Pathogenic |
| Disease | Beta Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247835dupT |
| CLNSRC | HBVAR |
| CLNACC | RCV000029975.1, |
[PMID 1515453] Identification of five rare mutations including a novel frameshift mutation causing beta zero-thalassemia in Thai patients with beta zero-thalassemia/hemoglobin E disease.
