rs35497102
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 5.5 | Beta Thalassemia major; Hemoglobin beta-zero; possibly transfusion dependent |
| (-;AA) | 3 | Beta Thalassemia carrier; Hemoglobin beta-zero mutation; anemia possible |
| (AA;AA) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226996 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35497102 |
| dbSNP (classic) | rs35497102 |
| ClinGen | rs35497102 |
| ebi | rs35497102 |
| HLI | rs35497102 |
| Exac | rs35497102 |
| Gnomad | rs35497102 |
| Varsome | rs35497102 |
| LitVar | rs35497102 |
| Map | rs35497102 |
| PheGenI | rs35497102 |
| Biobank | rs35497102 |
| 1000 genomes | rs35497102 |
| hgdp | rs35497102 |
| ensembl | rs35497102 |
| geneview | rs35497102 |
| scholar | rs35497102 |
| rs35497102 | |
| pharmgkb | rs35497102 |
| gwascentral | rs35497102 |
| openSNP | rs35497102 |
| 23andMe | rs35497102 |
| SNPshot | rs35497102 |
| SNPdbe | rs35497102 |
| MSV3d | rs35497102 |
| GWAS Ctlg | rs35497102 |
| Max Magnitude | 5.5 |
| ClinVar | |
|---|---|
| Risk | Rs35497102(-;-) |
| Alt | Rs35497102(-;-) |
| Reference | Rs35497102(AA;AA) |
| Significance | Pathogenic |
| Disease | beta^0^ Thalassemia Beta Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta^0^ Thalassemia beta Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248226_5248227delTT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016669.23, RCV000029972.2, |
[PMID 6985481] Nonsense and frameshift mutations in beta 0-thalassemia detected in cloned beta-globin genes.
[PMID 7795641] Sequence analysis reveals a beta-thalassaemia mutation in the DNA of skeletal remains from the archaeological site of Akhziv, Israel.
[PMID 2200760] Beta-thalassemia in Turkey.
[PMID 6292840
] mRNA-deficient beta o-thalassemia results from a single nucleotide deletion.
[PMID 6310991] beta-Thalassemia due to a deletion of the nucleotide which is substituted in the beta S-globin gene.
[PMID 15108284] Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis.
[PMID 20437613] Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
[PMID 20704537] ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of beta-thalassaemia.
[PMID 2430648] Beta zero-thalassemia in association with a gamma-globin gene quadruplication.
[PMID 6280057] Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.
