rs193922554
From SNPedia
| Merged into | rs34282684 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (TG;TG) | 0 | common in clinvar |
| Make rs193922554(-;-) |
| Make rs193922554(-;TG) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226688 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922554 |
| dbSNP (classic) | rs193922554 |
| ClinGen | rs193922554 |
| ebi | rs193922554 |
| HLI | rs193922554 |
| Exac | rs193922554 |
| Gnomad | rs193922554 |
| Varsome | rs193922554 |
| LitVar | rs193922554 |
| Map | rs193922554 |
| PheGenI | rs193922554 |
| Biobank | rs193922554 |
| 1000 genomes | rs193922554 |
| hgdp | rs193922554 |
| ensembl | rs193922554 |
| geneview | rs193922554 |
| scholar | rs193922554 |
| rs193922554 | |
| pharmgkb | rs193922554 |
| gwascentral | rs193922554 |
| openSNP | rs193922554 |
| 23andMe | rs193922554 |
| SNPshot | rs193922554 |
| SNPdbe | rs193922554 |
| MSV3d | rs193922554 |
| GWAS Ctlg | rs193922554 |
| Status | Merged into rs34282684 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs193922554(TG;TG) |
| Significance | Probable-Pathogenic |
| Disease | Beta thalassemia major |
| Variation | info |
| Gene | HBB |
| CLNDBN | Beta thalassemia major |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247918_5247919delCA |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000029968.1, |
[PMID 8257991] Identification of two novel beta zero-thalassemia mutations in a Filipino family: frameshift codon 67 (-TG) and a beta-globin gene deletion.
