rs33927739
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs33927739(A;T) |
| Make rs33927739(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 5226585 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33927739 |
| dbSNP (classic) | rs33927739 |
| ClinGen | rs33927739 |
| ebi | rs33927739 |
| HLI | rs33927739 |
| Exac | rs33927739 |
| Gnomad | rs33927739 |
| Varsome | rs33927739 |
| LitVar | rs33927739 |
| Map | rs33927739 |
| PheGenI | rs33927739 |
| Biobank | rs33927739 |
| 1000 genomes | rs33927739 |
| hgdp | rs33927739 |
| ensembl | rs33927739 |
| geneview | rs33927739 |
| scholar | rs33927739 |
| rs33927739 | |
| pharmgkb | rs33927739 |
| gwascentral | rs33927739 |
| openSNP | rs33927739 |
| 23andMe | rs33927739 |
| SNPshot | rs33927739 |
| SNPdbe | rs33927739 |
| MSV3d | rs33927739 |
| GWAS Ctlg | rs33927739 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33927739(C;C) rs33927739(T;T) |
| Alt | rs33927739(C;C) rs33927739(T;T) |
| Reference | Rs33927739(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN ST. MANDE |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN ST. MANDE |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247815T>A |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016603.2, |
[PMID 7238856] Hemoglobin Saint Mande beta 102 (G4) asn replaced by tyr: a new low oxygen affinity variant.
[PMID 15377483] Association of HbS and a new low oxygen affinity variant, Hb Canebiere, [beta102(G4)Asn->Lys] in a healthy child.
[PMID 20854124] Further studies on Hb Canebiere [beta12(G4)Asn-->His], a low affinity hemoglobin variant.
