rs33991059
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| (GG;GG) | 0 | common in clinvar |
| Make rs33991059(C;C) |
| Make rs33991059(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226779 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33991059 |
| dbSNP (classic) | rs33991059 |
| ClinGen | rs33991059 |
| ebi | rs33991059 |
| HLI | rs33991059 |
| Exac | rs33991059 |
| Gnomad | rs33991059 |
| Varsome | rs33991059 |
| LitVar | rs33991059 |
| Map | rs33991059 |
| PheGenI | rs33991059 |
| Biobank | rs33991059 |
| 1000 genomes | rs33991059 |
| hgdp | rs33991059 |
| ensembl | rs33991059 |
| geneview | rs33991059 |
| scholar | rs33991059 |
| rs33991059 | |
| pharmgkb | rs33991059 |
| gwascentral | rs33991059 |
| openSNP | rs33991059 |
| 23andMe | rs33991059 |
| SNPshot | rs33991059 |
| SNPdbe | rs33991059 |
| MSV3d | rs33991059 |
| GWAS Ctlg | rs33991059 |
| Merged from | Rs121909808 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33991059(A;A) rs33991059(C;C) |
| Alt | rs33991059(A;A) rs33991059(C;C) |
| Reference | Rs33991059(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN HIROSE |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN HIROSE |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248009C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016382.2, |
[PMID 5056652
] Oxygen equilibrium characteristics of abnormal hemoglobins. Hirose (alpha-2-beta-2-37Ser), L Ferrara (alpha-2-47-Gly-beta-2), Broussais (alpha-2-90-Asn-beta-2), and Dhofar (alpha-2-beta-2-58Arg).
[PMID 5126162] Hemoglobin Hirose: 2 237(C3) tryptophan yielding serine.
[PMID 6671905] Two further examples of Hb Hirose, beta 37 (C3) Trp----Ser.
[PMID 16114184] Beta-thalassemia due to a novel nonsense mutation at codon 37 (TGG-->TAG) found in an Afghanistani family.
