rs34802738
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs34802738(C;C) |
| Make rs34802738(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5233007 |
| Gene | HBD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34802738 |
| dbSNP (classic) | rs34802738 |
| ClinGen | rs34802738 |
| ebi | rs34802738 |
| HLI | rs34802738 |
| Exac | rs34802738 |
| Gnomad | rs34802738 |
| Varsome | rs34802738 |
| LitVar | rs34802738 |
| Map | rs34802738 |
| PheGenI | rs34802738 |
| Biobank | rs34802738 |
| 1000 genomes | rs34802738 |
| hgdp | rs34802738 |
| ensembl | rs34802738 |
| geneview | rs34802738 |
| scholar | rs34802738 |
| rs34802738 | |
| pharmgkb | rs34802738 |
| gwascentral | rs34802738 |
| openSNP | rs34802738 |
| 23andMe | rs34802738 |
| SNPshot | rs34802738 |
| SNPdbe | rs34802738 |
| MSV3d | rs34802738 |
| GWAS Ctlg | rs34802738 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34802738(C;C) |
| Alt | rs34802738(C;C) |
| Reference | Rs34802738(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN A(2) NINIVE |
| Variation | info |
| Gene | HBD |
| CLNDBN | HEMOGLOBIN A(2) NINIVE |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5254237A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016239.2, |
[PMID 15921167] Two new delta-globin mutations: Hb A2-Ninive [delta133(H11)Val-Ala] and a delta(+)-thalassemia mutation [-31 (A --> G)] in the TATA box of the delta-globin gene.
