rs193922555
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs193922555(-;-) |
| Make rs193922555(-;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226641 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922555 |
| dbSNP (classic) | rs193922555 |
| ClinGen | rs193922555 |
| ebi | rs193922555 |
| HLI | rs193922555 |
| Exac | rs193922555 |
| Gnomad | rs193922555 |
| Varsome | rs193922555 |
| LitVar | rs193922555 |
| Map | rs193922555 |
| PheGenI | rs193922555 |
| Biobank | rs193922555 |
| 1000 genomes | rs193922555 |
| hgdp | rs193922555 |
| ensembl | rs193922555 |
| geneview | rs193922555 |
| scholar | rs193922555 |
| rs193922555 | |
| pharmgkb | rs193922555 |
| gwascentral | rs193922555 |
| openSNP | rs193922555 |
| 23andMe | rs193922555 |
| SNPshot | rs193922555 |
| SNPdbe | rs193922555 |
| MSV3d | rs193922555 |
| GWAS Ctlg | rs193922555 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922555(-;-) |
| Alt | rs193922555(-;-) |
| Reference | Rs193922555(G;G) |
| Significance | Pathogenic |
| Disease | Beta thalassemia major Beta Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | Beta thalassemia major beta Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247871delC |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000029971.1, RCV000169623.1, |
[PMID 1517107] A mutation of CDS 82/83 (-G) observed in a Yugoslavian family with a heterozygosity for beta-thalassemia.
[PMID 1740317] Molecular characterization of beta-thalassemia in Czechoslovakia.
[PMID 9140720] A significant beta-thalassemia heterogeneity in the United Arab Emirates.
[PMID 9401495] Levels of Hb A2 in heterozygotes and homozygotes for beta-thalassemia mutations: influence of mutations in the CACCC and ATAAA motifs of the beta-globin gene promoter.
[PMID 16311287] Strategies and clinical outcome of 250 cycles of Preimplantation Genetic Diagnosis for single gene disorders.
[PMID 20437613] Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
