rs33987903
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs33987903(A;C) |
| Make rs33987903(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226644 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33987903 |
| dbSNP (classic) | rs33987903 |
| ClinGen | rs33987903 |
| ebi | rs33987903 |
| HLI | rs33987903 |
| Exac | rs33987903 |
| Gnomad | rs33987903 |
| Varsome | rs33987903 |
| LitVar | rs33987903 |
| Map | rs33987903 |
| PheGenI | rs33987903 |
| Biobank | rs33987903 |
| 1000 genomes | rs33987903 |
| hgdp | rs33987903 |
| ensembl | rs33987903 |
| geneview | rs33987903 |
| scholar | rs33987903 |
| rs33987903 | |
| pharmgkb | rs33987903 |
| gwascentral | rs33987903 |
| openSNP | rs33987903 |
| 23andMe | rs33987903 |
| SNPshot | rs33987903 |
| SNPdbe | rs33987903 |
| MSV3d | rs33987903 |
| GWAS Ctlg | rs33987903 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33987903(C;C) rs33987903(G;G) rs33987903(T;T) |
| Alt | rs33987903(C;C) rs33987903(G;G) rs33987903(T;T) |
| Reference | Rs33987903(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN HELSINKI HEMOGLOBIN RAHERE |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN HELSINKI HEMOGLOBIN RAHERE |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247874T>A; NC_000011.9:g.5247874T>G |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016376.2, RCV000016561.3, |
[PMID 124
] Haemoglobin Rahere (beta Lys-Thr): A new high affinity haemoglobin associated with decreased 2, 3-diphosphoglycerate binding and relative polycythaemia.
[PMID 3930571] Hemoglobin Rahere, a human hemoglobin variant with amino acid substitution at the 2,3-diphosphoglycerate binding site. Functional consequences of the alteration and effects of bezafibrate on the oxygen bindings.
[PMID 826083] Hb Helsinki: a variant with a high oxygen affinity and a substitution at a 2,3-DPG binding site (beta82[EF6] Lys replaced by Met).
[PMID 11482884] Rapid identification of hemoglobin variants by electrospray ionization mass spectrometry.
[PMID 16370484] Hb Stara Zagora: a new hyper-unstable hemoglobin causing severe hemolytic anemia.
[PMID 16370489] Hb taradale [beta82(EF6)Lys-->Arg]: a novel mutation at a 2,3-diphosphoglycerate binding site.
