rs34690599
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 3 | Beta Thalassemia carrier; Hemoglobin beta-plus mutation |
| (G;G) | 4.5 | Beta Thalassemia intermedia likely; Hemoglobin beta-plus; variable clinical symptoms |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 5225832 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34690599 |
| dbSNP (classic) | rs34690599 |
| ClinGen | rs34690599 |
| ebi | rs34690599 |
| HLI | rs34690599 |
| Exac | rs34690599 |
| Gnomad | rs34690599 |
| Varsome | rs34690599 |
| LitVar | rs34690599 |
| Map | rs34690599 |
| PheGenI | rs34690599 |
| Biobank | rs34690599 |
| 1000 genomes | rs34690599 |
| hgdp | rs34690599 |
| ensembl | rs34690599 |
| geneview | rs34690599 |
| scholar | rs34690599 |
| rs34690599 | |
| pharmgkb | rs34690599 |
| gwascentral | rs34690599 |
| openSNP | rs34690599 |
| 23andMe | rs34690599 |
| SNPshot | rs34690599 |
| SNPdbe | rs34690599 |
| MSV3d | rs34690599 |
| GWAS Ctlg | rs34690599 |
| Max Magnitude | 4.5 |
https://www.23andme.com/you/journal/beta_thalassemia/techreport/
| ClinVar | |
|---|---|
| Risk | Rs34690599(G;G) |
| Alt | Rs34690599(G;G) |
| Reference | Rs34690599(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.5247062G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016715.23, RCV000029978.3, |
[PMID 1390250] The beta-thalassaemia mutations in the population of Cyprus.
[PMID 1634236] Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of beta-thalassaemia in the Portuguese population.
[PMID 2298457] Molecular basis of beta-thalassemia in Turkey: detection of rare mutations by direct sequencing.
[PMID 3422218] The peculiar spectrum of beta-thalassemia genes in Tunisia.
[PMID 6583702
] beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site.
[PMID 18603555] Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of beta-thalassemia.
[PMID 2200760] Beta-thalassemia in Turkey.
[PMID 6280057] Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.
