rs34013622
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs34013622(A;A) |
| Make rs34013622(A;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226592 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34013622 |
| dbSNP (classic) | rs34013622 |
| ClinGen | rs34013622 |
| ebi | rs34013622 |
| HLI | rs34013622 |
| Exac | rs34013622 |
| Gnomad | rs34013622 |
| Varsome | rs34013622 |
| LitVar | rs34013622 |
| Map | rs34013622 |
| PheGenI | rs34013622 |
| Biobank | rs34013622 |
| 1000 genomes | rs34013622 |
| hgdp | rs34013622 |
| ensembl | rs34013622 |
| geneview | rs34013622 |
| scholar | rs34013622 |
| rs34013622 | |
| pharmgkb | rs34013622 |
| gwascentral | rs34013622 |
| openSNP | rs34013622 |
| 23andMe | rs34013622 |
| SNPshot | rs34013622 |
| SNPdbe | rs34013622 |
| MSV3d | rs34013622 |
| GWAS Ctlg | rs34013622 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34013622(A;A) rs34013622(G;G) |
| Alt | rs34013622(A;A) rs34013622(G;G) |
| Reference | Rs34013622(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN COIMBRA |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN COIMBRA |
| Reversed | 1 |
| HGVS | NC_000011.10:g.5226592A>Y |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016757.1, |
[PMID 1814856] Hb Coimbra or alpha 2 beta (2)99(G1)Asp----Glu, a newly discovered highoxygen affinity variant.
