rs34598529
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 3 | Beta Thalassemia carrier; Hemoglobin beta-plus mutation |
| (G;G) | 4.5 | Beta Thalassemia intermedia likely; Hemoglobin beta-plus; variable clinical symptoms |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5227100 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34598529 |
| dbSNP (classic) | rs34598529 |
| ClinGen | rs34598529 |
| ebi | rs34598529 |
| HLI | rs34598529 |
| Exac | rs34598529 |
| Gnomad | rs34598529 |
| Varsome | rs34598529 |
| LitVar | rs34598529 |
| Map | rs34598529 |
| PheGenI | rs34598529 |
| Biobank | rs34598529 |
| 1000 genomes | rs34598529 |
| hgdp | rs34598529 |
| ensembl | rs34598529 |
| geneview | rs34598529 |
| scholar | rs34598529 |
| rs34598529 | |
| pharmgkb | rs34598529 |
| gwascentral | rs34598529 |
| openSNP | rs34598529 |
| 23andMe | rs34598529 |
| SNPshot | rs34598529 |
| SNPdbe | rs34598529 |
| MSV3d | rs34598529 |
| GWAS Ctlg | rs34598529 |
| Max Magnitude | 4.5 |
| ClinVar | |
|---|---|
| Risk | Rs34598529(G;G) |
| Alt | Rs34598529(G;G) |
| Reference | Rs34598529(A;A) |
| 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.5248330T>C |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016727.23, RCV000020326.2, RCV000029961.1, |
[PMID 1698102] Observations on the levels of Hb A2 in patients with different beta-thalassemia mutations and a delta chain variant.
[PMID 2458145] Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States.
[PMID 2460127] Hb S(C)-beta+-thalassaemia: different mutations are associated with different levels of normal Hb A.
[PMID 3799593] Clinical and molecular correlations in the sickle/beta+-thalassemia syndrome.
[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.
[PMID 26694100
] Obesity-related known and candidate SNP markers can significantly change affinity of TATA-binding protein for human gene promoters.
