rs33937393
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs33937393(A;G) |
| Make rs33937393(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 5226587 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33937393 |
| dbSNP (classic) | rs33937393 |
| ClinGen | rs33937393 |
| ebi | rs33937393 |
| HLI | rs33937393 |
| Exac | rs33937393 |
| Gnomad | rs33937393 |
| Varsome | rs33937393 |
| LitVar | rs33937393 |
| Map | rs33937393 |
| PheGenI | rs33937393 |
| Biobank | rs33937393 |
| 1000 genomes | rs33937393 |
| hgdp | rs33937393 |
| ensembl | rs33937393 |
| geneview | rs33937393 |
| scholar | rs33937393 |
| rs33937393 | |
| pharmgkb | rs33937393 |
| gwascentral | rs33937393 |
| openSNP | rs33937393 |
| 23andMe | rs33937393 |
| SNPshot | rs33937393 |
| SNPdbe | rs33937393 |
| MSV3d | rs33937393 |
| GWAS Ctlg | rs33937393 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33937393(C;C) rs33937393(G;G) |
| Alt | rs33937393(C;C) rs33937393(G;G) |
| Reference | Rs33937393(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN ALBERTA |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN ALBERTA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247817T>C |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016247.2, |
[PMID 750556] A second patient with hemoglobin Alberta, a high-oxygen-affinity variant causing erythrocytosis and forming asymmetric tetramers.
[PMID 903694] Isoelectric focusing studies of a "stable" asymmetrical hybrid formed with a new hemoglobin variant, hemoglobin alberta (alpha2beta2101(G3)Glu leads to Gly).
[PMID 11482884] Rapid identification of hemoglobin variants by electrospray ionization mass spectrometry.
