rs33910569
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs33910569(A;C) |
| Make rs33910569(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225659 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33910569 |
| dbSNP (classic) | rs33910569 |
| ClinGen | rs33910569 |
| ebi | rs33910569 |
| HLI | rs33910569 |
| Exac | rs33910569 |
| Gnomad | rs33910569 |
| Varsome | rs33910569 |
| LitVar | rs33910569 |
| Map | rs33910569 |
| PheGenI | rs33910569 |
| Biobank | rs33910569 |
| 1000 genomes | rs33910569 |
| hgdp | rs33910569 |
| ensembl | rs33910569 |
| geneview | rs33910569 |
| scholar | rs33910569 |
| rs33910569 | |
| pharmgkb | rs33910569 |
| gwascentral | rs33910569 |
| openSNP | rs33910569 |
| 23andMe | rs33910569 |
| SNPshot | rs33910569 |
| SNPdbe | rs33910569 |
| MSV3d | rs33910569 |
| GWAS Ctlg | rs33910569 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33910569(C;C) rs33910569(G;G) |
| Alt | rs33910569(C;C) rs33910569(G;G) |
| Reference | Rs33910569(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN DIEPPE Beta-Houston-thalassemia Beta-plus-thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN DIEPPE Beta-Houston-thalassemia Beta-plus-thalassemia, dominant |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246889T>C; NC_000011.9:g.5246889T>G |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016802.2, RCV000016664.31, RCV000022611.27, |
[PMID 1420507] Rapid molecular characterization of mutations leading to unstable hemoglobin beta-chain variants.
[PMID 1586746] Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene.
