rs33913712
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33913712(A;A) |
| Make rs33913712(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226621 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33913712 |
| dbSNP (classic) | rs33913712 |
| ClinGen | rs33913712 |
| ebi | rs33913712 |
| HLI | rs33913712 |
| Exac | rs33913712 |
| Gnomad | rs33913712 |
| Varsome | rs33913712 |
| LitVar | rs33913712 |
| Map | rs33913712 |
| PheGenI | rs33913712 |
| Biobank | rs33913712 |
| 1000 genomes | rs33913712 |
| hgdp | rs33913712 |
| ensembl | rs33913712 |
| geneview | rs33913712 |
| scholar | rs33913712 |
| rs33913712 | |
| pharmgkb | rs33913712 |
| gwascentral | rs33913712 |
| openSNP | rs33913712 |
| 23andMe | rs33913712 |
| SNPshot | rs33913712 |
| SNPdbe | rs33913712 |
| MSV3d | rs33913712 |
| GWAS Ctlg | rs33913712 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33913712(A;A) rs33913712(T;T) |
| Alt | rs33913712(A;A) rs33913712(T;T) |
| Reference | Rs33913712(G;G) |
| Significance | Other |
| Disease | beta^0^ Thalassemia HEMOGLOBIN AGENOGI HEMOGLOBIN S (CAMEROON) |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta^0^ Thalassemia HEMOGLOBIN AGENOGI HEMOGLOBIN S (CAMEROON) |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247851C>A; NC_000011.9:g.5247851C>T |
| CLNSRC | OMIM Allelic Variant HBVAR UniProtKB (protein) |
| CLNACC | RCV000016766.27, RCV000016244.2, RCV000016877.5, |
[PMID 2079434] Hb Agenogi [beta 90(F6)Glu----Lys] and beta zero-thalassemia in a Sicilian family.
[PMID 5416123] Studies on the function of abnormal hemoglobins. II. Oxygen equilibrium of abnormal hemoglobins: Shimonoseki, Ube II, Hikari, Gifu, and Agenogi.
[PMID 5972415] Hemoglobin agenogi (alpha 2 beta 2-90Lys), a slow-moving hemoglobin of a Japanese family resembling Hb-E.
[PMID 9785927] Hemoglobin Agenogi [beta 90 (F6) Glu-->Lys] found in Piedmont. Case report.
[PMID 12144066] Hb Agenogi [P90(F6)Glu-->Lys] in an Argentinean girl.
[PMID 1634368] Three beta-thalassemia mutations in the Japanese: IVS-II-1 (G----A), IVS-II-848 (C----G), and codon 90 (GAG----TAG).
[PMID 2310691] Molecular heterogeneity of beta-thalassaemia in the Japanese: identification of two novel mutations.
