rs33947415
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs33947415(A;A) |
| Make rs33947415(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 5226684 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33947415 |
| dbSNP (classic) | rs33947415 |
| ClinGen | rs33947415 |
| ebi | rs33947415 |
| HLI | rs33947415 |
| Exac | rs33947415 |
| Gnomad | rs33947415 |
| Varsome | rs33947415 |
| LitVar | rs33947415 |
| Map | rs33947415 |
| PheGenI | rs33947415 |
| Biobank | rs33947415 |
| 1000 genomes | rs33947415 |
| hgdp | rs33947415 |
| ensembl | rs33947415 |
| geneview | rs33947415 |
| scholar | rs33947415 |
| rs33947415 | |
| pharmgkb | rs33947415 |
| gwascentral | rs33947415 |
| openSNP | rs33947415 |
| 23andMe | rs33947415 |
| SNPshot | rs33947415 |
| SNPdbe | rs33947415 |
| MSV3d | rs33947415 |
| GWAS Ctlg | rs33947415 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33947415(A;A) rs33947415(C;C) |
| Alt | rs33947415(A;A) rs33947415(C;C) |
| Reference | Rs33947415(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN KENITRA HEMOGLOBIN CITY OF HOPE Beta thalassemia intermedia Beta Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN KENITRA HEMOGLOBIN CITY OF HOPE Beta thalassemia intermedia beta Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247914C>G; NC_000011.9:g.5247914C>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016437.3, RCV000016301.3, RCV000029969.2, RCV000396079.1, |
[PMID 1353069] Hb City of Hope [beta 69(E13)Gly----Ser] in Italy: association of the gene with haplotype IX.
[PMID 2200760] Beta-thalassemia in Turkey.
[PMID 2467892] Beta-thalassemia intermedia in two Turkish families is caused by the interaction of Hb Knossos [beta 27(B9)Ala----Ser] and of Hb City of Hope [beta 69(E13)Gly----ser] with beta (0)-thalassemia.
[PMID 3957690] The identification of five rare beta-chain abnormal hemoglobins by high performance liquid chromatographic procedures.
[PMID 6434492] A silent hemoglobin variant detected by HPLC: hemoglobin City of Hope beta 69 (E13) Gly----Ser.
[PMID 17932132] Mass spectrometry: a tool for enhanced detection of hemoglobin variants.
[PMID 3838975] Hemoglobin kenitra alpha 2 beta 2 69 (E13) Gly----Arg. A new beta variant of elevated expression associated with alpha-thalassemia, found in a Moroccan woman.
