rs33981098
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| (A;C) | 3 | Beta Thalassemia carrier; Hemoglobin beta-plus mutation |
| (C;C) | 4.5 | Beta Thalassemia intermedia likely; Hemoglobin beta-plus; variable clinical symptoms |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5227102 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33981098 |
| dbSNP (classic) | rs33981098 |
| ClinGen | rs33981098 |
| ebi | rs33981098 |
| HLI | rs33981098 |
| Exac | rs33981098 |
| Gnomad | rs33981098 |
| Varsome | rs33981098 |
| LitVar | rs33981098 |
| Map | rs33981098 |
| PheGenI | rs33981098 |
| Biobank | rs33981098 |
| 1000 genomes | rs33981098 |
| hgdp | rs33981098 |
| ensembl | rs33981098 |
| geneview | rs33981098 |
| scholar | rs33981098 |
| rs33981098 | |
| pharmgkb | rs33981098 |
| gwascentral | rs33981098 |
| openSNP | rs33981098 |
| 23andMe | rs33981098 |
| SNPshot | rs33981098 |
| SNPdbe | rs33981098 |
| MSV3d | rs33981098 |
| GWAS Ctlg | rs33981098 |
| Max Magnitude | 4.5 |
23andMe name: i6012473
| ClinVar | |
|---|---|
| Risk | Rs33981098(C;C) rs33981098(G;G) |
| Alt | Rs33981098(C;C) rs33981098(G;G) |
| Reference | Rs33981098(A;A) |
| 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.5248332T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016724.26, RCV000445643.1, |
[PMID 3002527] A novel mutation in the TATA box in a Japanese patient with beta +-thalassemia.
[PMID 26694100
] Obesity-related known and candidate SNP markers can significantly change affinity of TATA-binding protein for human gene promoters.
