rs34227486
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs34227486(A;A) |
| Make rs34227486(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226583 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34227486 |
| dbSNP (classic) | rs34227486 |
| ClinGen | rs34227486 |
| ebi | rs34227486 |
| HLI | rs34227486 |
| Exac | rs34227486 |
| Gnomad | rs34227486 |
| Varsome | rs34227486 |
| LitVar | rs34227486 |
| Map | rs34227486 |
| PheGenI | rs34227486 |
| Biobank | rs34227486 |
| 1000 genomes | rs34227486 |
| hgdp | rs34227486 |
| ensembl | rs34227486 |
| geneview | rs34227486 |
| scholar | rs34227486 |
| rs34227486 | |
| pharmgkb | rs34227486 |
| gwascentral | rs34227486 |
| openSNP | rs34227486 |
| 23andMe | rs34227486 |
| SNPshot | rs34227486 |
| SNPdbe | rs34227486 |
| MSV3d | rs34227486 |
| GWAS Ctlg | rs34227486 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34227486(A;A) rs34227486(G;G) |
| Alt | rs34227486(A;A) rs34227486(G;G) |
| Reference | Rs34227486(C;C) |
| Significance | Untested |
| Disease | Beta Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247813G>T |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000029977.1, |
[PMID 239952] Hemoglobin Richmond. Subunit dissociation and oxygen equilibrium properties.
[PMID 4981790] Hemoglobin Richmond, a human hemoglobin which forms asymmetric hybrids with other hemoglobins.
[PMID 5283757] Three-dimensional structure of abnormal human haemoglobins Kansas and Richmond.
[PMID 5481775] Hemoglobin O arab in four negro families and its interaction with hemoglobin S and hemoglobin C.
