rs33974936
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5.5 | Beta Thalassemia major; Hemoglobin beta-zero |
| (A;G) | 3 | Beta Thalassemia carrier; Hemoglobin beta-zero mutation; anemia possible |
| (G;G) | 0 | common in complete genomics |
| (GA;GA) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226778 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33974936 |
| dbSNP (classic) | rs33974936 |
| ClinGen | rs33974936 |
| ebi | rs33974936 |
| HLI | rs33974936 |
| Exac | rs33974936 |
| Gnomad | rs33974936 |
| Varsome | rs33974936 |
| LitVar | rs33974936 |
| Map | rs33974936 |
| PheGenI | rs33974936 |
| Biobank | rs33974936 |
| 1000 genomes | rs33974936 |
| hgdp | rs33974936 |
| ensembl | rs33974936 |
| geneview | rs33974936 |
| scholar | rs33974936 |
| rs33974936 | |
| pharmgkb | rs33974936 |
| gwascentral | rs33974936 |
| openSNP | rs33974936 |
| 23andMe | rs33974936 |
| SNPshot | rs33974936 |
| SNPdbe | rs33974936 |
| MSV3d | rs33974936 |
| GWAS Ctlg | rs33974936 |
| Merged from | Rs111033583 |
| Max Magnitude | 5.5 |
23andMe name: i6012428
| ClinVar | |
|---|---|
| Risk | Rs33974936(A;A) rs33974936(T;T) |
| Alt | Rs33974936(A;A) rs33974936(T;T) |
| Reference | Rs33974936(G;G) |
| 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.5248008C>T |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016659.26, RCV000169502.1, |
[PMID 1520612] High prevalence of the beta-thalassaemia nonsense 37 mutation in Catalonians from the Ebro delta.
[PMID 3006832] Use of oligonucleotide hybridization in the characterization of a beta zero-thalassemia gene (beta 37 TGG----TGA) in a Saudi Arabian family.
[PMID 7852087] Molecular characterization of beta-thalassemia in north Jordan.
