rs33944208
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 4.5 | Beta Thalassemia intermedia likely; Hemoglobin beta-plus; variable clinical symptoms |
| (A;C) | 3 | Beta Thalassemia carrier; Hemoglobin beta-plus mutation |
| (C;C) | 0 | common in complete genomics |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 5227159 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33944208 |
| dbSNP (classic) | rs33944208 |
| ClinGen | rs33944208 |
| ebi | rs33944208 |
| HLI | rs33944208 |
| Exac | rs33944208 |
| Gnomad | rs33944208 |
| Varsome | rs33944208 |
| LitVar | rs33944208 |
| Map | rs33944208 |
| PheGenI | rs33944208 |
| Biobank | rs33944208 |
| 1000 genomes | rs33944208 |
| hgdp | rs33944208 |
| ensembl | rs33944208 |
| geneview | rs33944208 |
| scholar | rs33944208 |
| rs33944208 | |
| pharmgkb | rs33944208 |
| gwascentral | rs33944208 |
| openSNP | rs33944208 |
| 23andMe | rs33944208 |
| SNPshot | rs33944208 |
| SNPdbe | rs33944208 |
| MSV3d | rs33944208 |
| GWAS Ctlg | rs33944208 |
| Max Magnitude | 4.5 |
| ClinVar | |
|---|---|
| Risk | Rs33944208(A;A) rs33944208(G;G) rs33944208(T;T) |
| Alt | Rs33944208(A;A) rs33944208(G;G) rs33944208(T;T) |
| Reference | Rs33944208(C;C) |
| Significance | Pathogenic |
| Disease | Beta-plus-thalassemia Beta Thalassemia Beta thalassemia intermedia |
| Variation | info |
| Gene | HBB |
| CLNDBN | Beta-plus-thalassemia beta Thalassemia Beta thalassemia intermedia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248389G>A; NC_000011.9:g.5248389G>T |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016718.26, RCV000020324.2, RCV000029953.1, RCV000445645.1, |
[PMID 1986379
] Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan.
[PMID 1384315] Black beta-thalassemia homozygotes with specific sequence variations in the 5' hypersensitive site-2 of the locus control region have high levels of fetal hemoglobin.
[PMID 2458145] Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States.
[PMID 3462712] On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups.
[PMID 6086605] Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC.
[PMID 9401495] Levels of Hb A2 in heterozygotes and homozygotes for beta-thalassemia mutations: influence of mutations in the CACCC and ATAAA motifs of the beta-globin gene promoter.
