rs34733452
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs34733452(C;T) |
| Make rs34733452(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177030 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34733452 |
| dbSNP (classic) | rs34733452 |
| ClinGen | rs34733452 |
| ebi | rs34733452 |
| HLI | rs34733452 |
| Exac | rs34733452 |
| Gnomad | rs34733452 |
| Varsome | rs34733452 |
| LitVar | rs34733452 |
| Map | rs34733452 |
| PheGenI | rs34733452 |
| Biobank | rs34733452 |
| 1000 genomes | rs34733452 |
| hgdp | rs34733452 |
| ensembl | rs34733452 |
| geneview | rs34733452 |
| scholar | rs34733452 |
| rs34733452 | |
| pharmgkb | rs34733452 |
| gwascentral | rs34733452 |
| openSNP | rs34733452 |
| 23andMe | rs34733452 |
| SNPshot | rs34733452 |
| SNPdbe | rs34733452 |
| MSV3d | rs34733452 |
| GWAS Ctlg | rs34733452 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34733452(T;T) |
| Alt | rs34733452(T;T) |
| Reference | Rs34733452(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN BOIS GUILLAUME |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN BOIS GUILLAUME |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227029C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017212.2, |
[PMID 8537232] Three new neutral alpha chain variants: Hb Bois Guillaume [alpha 65(E14(Ala-->Val], Hb Mantes-la-Jolie [alpha 79(EF8)Ala-Thr], and Hb Mosella [alpha 111(G18)Ala-->Thr].
