rs34500389
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs34500389(A;A) |
| Make rs34500389(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5227103 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34500389 |
| dbSNP (classic) | rs34500389 |
| ClinGen | rs34500389 |
| ebi | rs34500389 |
| HLI | rs34500389 |
| Exac | rs34500389 |
| Gnomad | rs34500389 |
| Varsome | rs34500389 |
| LitVar | rs34500389 |
| Map | rs34500389 |
| PheGenI | rs34500389 |
| Biobank | rs34500389 |
| 1000 genomes | rs34500389 |
| hgdp | rs34500389 |
| ensembl | rs34500389 |
| geneview | rs34500389 |
| scholar | rs34500389 |
| rs34500389 | |
| pharmgkb | rs34500389 |
| gwascentral | rs34500389 |
| openSNP | rs34500389 |
| 23andMe | rs34500389 |
| SNPshot | rs34500389 |
| SNPdbe | rs34500389 |
| MSV3d | rs34500389 |
| GWAS Ctlg | rs34500389 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34500389(A;A) rs34500389(T;T) |
| Alt | rs34500389(A;A) rs34500389(T;T) |
| Reference | Rs34500389(C;C) |
| Significance | Pathogenic |
| Disease | Beta-plus-thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | Beta-plus-thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248333G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016752.27, |
[PMID 1729892
] A novel -32 (C-A) mutant identified in amplified genomic DNA of a Chinese beta-thalassemic patient.
[PMID 17486493] Three new beta-globin gene promoter mutations identified through newborn screening.
[PMID 26694100] Obesity-related known and candidate SNP markers can significantly change affinity of TATA-binding protein for human gene promoters.
