rs33951465
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 3 | Carrier of a hemoglobin beta-thalassemia mutation |
| (T;T) | 0 | common in complete genomics |
| (TG;TG) | 0 | common in clinvar |
| Make rs33951465(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226947 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33951465 |
| dbSNP (classic) | rs33951465 |
| ClinGen | rs33951465 |
| ebi | rs33951465 |
| HLI | rs33951465 |
| Exac | rs33951465 |
| Gnomad | rs33951465 |
| Varsome | rs33951465 |
| LitVar | rs33951465 |
| Map | rs33951465 |
| PheGenI | rs33951465 |
| Biobank | rs33951465 |
| 1000 genomes | rs33951465 |
| hgdp | rs33951465 |
| ensembl | rs33951465 |
| geneview | rs33951465 |
| scholar | rs33951465 |
| rs33951465 | |
| pharmgkb | rs33951465 |
| gwascentral | rs33951465 |
| openSNP | rs33951465 |
| 23andMe | rs33951465 |
| SNPshot | rs33951465 |
| SNPdbe | rs33951465 |
| MSV3d | rs33951465 |
| GWAS Ctlg | rs33951465 |
| Max Magnitude | 3 |
aka c.75T>A (p.Gly25=); OMIM notes that the 1983 publication reporting this mutation indicated it affects mRNA rather than the protein
FTDNA & MyHeritage name: VG11S5372
| ClinVar | |
|---|---|
| Risk | rs33951465(A;A) rs33951465(G;G) |
| Alt | rs33951465(A;A) rs33951465(G;G) |
| Reference | Rs33951465(T;T) |
| 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.5248177A>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016717.26, RCV000030002.2, |
[PMID 2458145] Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States.
[PMID 2634667] Characterization of beta-thalassemia mutations among the Japanese.
[PMID 6572978
] "Silent" nucleotide substitution in a beta+-thalassemia globin gene activates splice site in coding sequence RNA.
[PMID 6188062] Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes.
[PMID 6583702] beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site.
[PMID 20737602] Molecular characterization of sickle cell anemia in the Northern Brazilian state of Para.
