rs35724775
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | |
| (C;C) | 4.5 | Beta Thalassemia intermedia likely; Hemoglobin beta-plus; variable clinical symptoms |
| (C;T) | 3 | Beta Thalassemia carrier; Hemoglobin beta-plus mutation |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 5226924 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35724775 |
| dbSNP (classic) | rs35724775 |
| ClinGen | rs35724775 |
| ebi | rs35724775 |
| HLI | rs35724775 |
| Exac | rs35724775 |
| Gnomad | rs35724775 |
| Varsome | rs35724775 |
| LitVar | rs35724775 |
| Map | rs35724775 |
| PheGenI | rs35724775 |
| Biobank | rs35724775 |
| 1000 genomes | rs35724775 |
| hgdp | rs35724775 |
| ensembl | rs35724775 |
| geneview | rs35724775 |
| scholar | rs35724775 |
| rs35724775 | |
| pharmgkb | rs35724775 |
| gwascentral | rs35724775 |
| openSNP | rs35724775 |
| 23andMe | rs35724775 |
| SNPshot | rs35724775 |
| SNPdbe | rs35724775 |
| MSV3d | rs35724775 |
| GWAS Ctlg | rs35724775 |
| Max Magnitude | 4.5 |
aka c.92+6T>C, a pathogenic variant; note also c.92+6T>A, which is a variant of uncertain significance according to ClinVar
Beta Thalassemia https://www.23andme.com/you/journal/beta_thalassemia/techreport/
| ClinVar | |
|---|---|
| Risk | Rs35724775(A;A) Rs35724775(C;C) |
| Alt | Rs35724775(A;A) Rs35724775(C;C) |
| Reference | Rs35724775(T;T) |
| Significance | Pathogenic |
| Disease | Beta-plus-thalassemia Beta Thalassemia not provided |
| Variation | info |
| Gene | HBB |
| CLNDBN | Beta-plus-thalassemia beta Thalassemia not provided |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248154A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016708.26, RCV000415353.2, RCV000417932.1, |
[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.
[PMID 6821648] Studies on the haemopoietic toxicity of nitrous oxide in man.
[PMID 7522523] Possible factors influencing the haemoglobin and fetal haemoglobin levels in patients with beta-thalassaemia due to a homozygosity for the IVS-I-6 (T-->C) mutation.
[PMID 8454469] Beta-thalassemia mutations in the Portuguese; high frequencies of two alleles in restricted populations.
[PMID 8518184] The beta + IVS, I-NT no. 6 (T --> C) thalassaemia in heterozygotes with an associated Hb Valletta or Hb S heterozygosity in homozygotes from Malta.
