rs34068598
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs34068598(C;C) |
| Make rs34068598(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 176999 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34068598 |
| dbSNP (classic) | rs34068598 |
| ClinGen | rs34068598 |
| ebi | rs34068598 |
| HLI | rs34068598 |
| Exac | rs34068598 |
| Gnomad | rs34068598 |
| Varsome | rs34068598 |
| LitVar | rs34068598 |
| Map | rs34068598 |
| PheGenI | rs34068598 |
| Biobank | rs34068598 |
| 1000 genomes | rs34068598 |
| hgdp | rs34068598 |
| ensembl | rs34068598 |
| geneview | rs34068598 |
| scholar | rs34068598 |
| rs34068598 | |
| pharmgkb | rs34068598 |
| gwascentral | rs34068598 |
| openSNP | rs34068598 |
| 23andMe | rs34068598 |
| SNPshot | rs34068598 |
| SNPdbe | rs34068598 |
| MSV3d | rs34068598 |
| GWAS Ctlg | rs34068598 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34068598(C;C) |
| Alt | rs34068598(C;C) |
| Reference | Rs34068598(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN ROUBAIX |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN ROUBAIX |
| Reversed | 0 |
| HGVS | NC_000016.9:g.226998G>C |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000017223.2, |
[PMID 10569725] Hb Roubaix [alpha55(E4)Val-->Leu]: a new neutral hemoglobin variant involving the alpha1 gene.
[PMID 12403494] Three new variants of the alpha1-globin gene without clinical or hematologic effects: Hb Hagerstown [alpha44(CE2)Pro-->Ala (alpha1)]; Hb Buffalo [alpha89(FG1)His-->Gln (alpha1)], a hemoglobin variant from Somalia and Yemen; Hb Wichita [alpha95(G2)Pro-->Gln (alpha1)]; and a second, unrelated, case of Hb Roubaix [alpha55(E4)Val-->Leu (alpha1)].
