rs33961444
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs33961444(C;G) |
| Make rs33961444(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225603 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33961444 |
| dbSNP (classic) | rs33961444 |
| ClinGen | rs33961444 |
| ebi | rs33961444 |
| HLI | rs33961444 |
| Exac | rs33961444 |
| Gnomad | rs33961444 |
| Varsome | rs33961444 |
| LitVar | rs33961444 |
| Map | rs33961444 |
| PheGenI | rs33961444 |
| Biobank | rs33961444 |
| 1000 genomes | rs33961444 |
| hgdp | rs33961444 |
| ensembl | rs33961444 |
| geneview | rs33961444 |
| scholar | rs33961444 |
| rs33961444 | |
| pharmgkb | rs33961444 |
| gwascentral | rs33961444 |
| openSNP | rs33961444 |
| 23andMe | rs33961444 |
| SNPshot | rs33961444 |
| SNPdbe | rs33961444 |
| MSV3d | rs33961444 |
| GWAS Ctlg | rs33961444 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33961444(G;G) rs33961444(T;T) |
| Alt | rs33961444(G;G) rs33961444(T;T) |
| Reference | Rs33961444(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN BOLOGNA-ST. ORSOLA HEMOGLOBIN HIROSHIMA |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN BOLOGNA-ST. ORSOLA HEMOGLOBIN HIROSHIMA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246833G>A; NC_000011.9:g.5246833G>C |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016844.2, RCV000016383.2, |
[PMID 5097577
] Ligand kinetics in hemoglobin Hiroshima.
[PMID 5682299] Oxygen equilibrium of hemoglobin Hiroshima.
[PMID 5698004] Oxygen-equilibrium characteristics of abnormal hemoglobin Hiroshima (alpha-2 beta-2 143 Asp).
[PMID 5773089] Hemoglobin Hiroshima (beta-143 histidine--aspartic acid): a newly identified fast moving beta chain variant associated with increased oxygen affinity and compensatory erythremia.
[PMID 9054694] Haemoglobin Hallamshire (beta146 HIS --> TYR): a new high oxygen affinity haemoglobin responsible for familial erythrocytosis.
[PMID 10569724] Hb Bologna-St. Orsola [beta146(HC3)His-->Tyr]: a new high oxygen affinity variant with halved Bohr effect and highly reduced reactivity towards 2,3-diphosphoglycerate.
[PMID 10870885] A second case of Hb Bologna-St. Orsola [beta146(HC3)His-->Tyr] in an unrelated family of Anglo-Celtic origin.
