rs33980857
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 4.5 | Beta Thalassemia intermedia likely; Hemoglobin beta-plus; variable clinical symptoms |
| (A;T) | 3 | Beta Thalassemia carrier; Hemoglobin beta-plus mutation |
| (T;T) | 0 | common in complete genomics |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5227101 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33980857 |
| dbSNP (classic) | rs33980857 |
| ClinGen | rs33980857 |
| ebi | rs33980857 |
| HLI | rs33980857 |
| Exac | rs33980857 |
| Gnomad | rs33980857 |
| Varsome | rs33980857 |
| LitVar | rs33980857 |
| Map | rs33980857 |
| PheGenI | rs33980857 |
| Biobank | rs33980857 |
| 1000 genomes | rs33980857 |
| hgdp | rs33980857 |
| ensembl | rs33980857 |
| geneview | rs33980857 |
| scholar | rs33980857 |
| rs33980857 | |
| pharmgkb | rs33980857 |
| gwascentral | rs33980857 |
| openSNP | rs33980857 |
| 23andMe | rs33980857 |
| SNPshot | rs33980857 |
| SNPdbe | rs33980857 |
| MSV3d | rs33980857 |
| GWAS Ctlg | rs33980857 |
| Max Magnitude | 4.5 |
| ClinVar | |
|---|---|
| Risk | Rs33980857(A;A) rs33980857(C;C) rs33980857(G;G) |
| Alt | Rs33980857(A;A) rs33980857(C;C) rs33980857(G;G) |
| Reference | Rs33980857(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.5248331A>T |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016725.26, RCV000029962.1, |
[PMID 1917531] Beta-thalassemia, HB S-beta-thalassemia and sickle cell anemia among Tunisians.
[PMID 3382401] Beta-thalassemia due to a T----A mutation within the ATA box.
[PMID 2741940
] A new TATA box mutation detected at prenatal diagnosis for beta-thalassemia.
[PMID 26694100] Obesity-related known and candidate SNP markers can significantly change affinity of TATA-binding protein for human gene promoters.
