rs33946267
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs33946267(C;C) |
| Make rs33946267(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225678 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33946267 |
| dbSNP (classic) | rs33946267 |
| ClinGen | rs33946267 |
| ebi | rs33946267 |
| HLI | rs33946267 |
| Exac | rs33946267 |
| Gnomad | rs33946267 |
| Varsome | rs33946267 |
| LitVar | rs33946267 |
| Map | rs33946267 |
| PheGenI | rs33946267 |
| Biobank | rs33946267 |
| 1000 genomes | rs33946267 |
| hgdp | rs33946267 |
| ensembl | rs33946267 |
| geneview | rs33946267 |
| scholar | rs33946267 |
| rs33946267 | |
| pharmgkb | rs33946267 |
| gwascentral | rs33946267 |
| openSNP | rs33946267 |
| 23andMe | rs33946267 |
| SNPshot | rs33946267 |
| SNPdbe | rs33946267 |
| MSV3d | rs33946267 |
| GWAS Ctlg | rs33946267 |
| Max Magnitude | 0 |
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[PMID 1112610] Twelve families with Hb O Arab in the Burgas district of Bulgaria. Observations on sixteen examples of Hb O Arab-beta (0) thalassaemia.
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[PMID 10205993] HbOThrace trait, HbOThrace hemoglobinopathy and HbOThrace/Hb beta zero hemoglobinopathy: a retrospective study of 118 cases.
[PMID 1517108] Two beta-thalassemia mutations in Japan: codon 121 (GAA----TAA) and IVS-I-130 (G----C).
[PMID 1740317] Molecular characterization of beta-thalassemia in Czechoslovakia.
[PMID 1971109] Molecular basis for dominantly inherited inclusion body beta-thalassemia.
[PMID 2563949] One form of inclusion body beta-thalassemia is due to a GAA----TAA mutation at codon 121 of the beta chain.
[PMID 3014870] Characterization of a spontaneous mutation to a beta-thalassemia allele.
[PMID 3417300] A substitution of cytosine for thymine in codon 110 of the human beta-globin gene is a novel cause of beta-thalassemia phenotypes.
[PMID 4361439] Inclusion-body beta-thalassemia trait. A form of beta thalassemia producing clinical manifestations in simple heterozygotes.
