rs34383403
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (AA;AA) | 0 | common in clinvar |
| Make rs34383403(-;-) |
| Make rs34383403(-;TGGCCCACA) |
| Make rs34383403(TGGCCCACA;TGGCCCACA) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225609 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34383403 |
| dbSNP (classic) | rs34383403 |
| ClinGen | rs34383403 |
| ebi | rs34383403 |
| HLI | rs34383403 |
| Exac | rs34383403 |
| Gnomad | rs34383403 |
| Varsome | rs34383403 |
| LitVar | rs34383403 |
| Map | rs34383403 |
| PheGenI | rs34383403 |
| Biobank | rs34383403 |
| 1000 genomes | rs34383403 |
| hgdp | rs34383403 |
| ensembl | rs34383403 |
| geneview | rs34383403 |
| scholar | rs34383403 |
| rs34383403 | |
| pharmgkb | rs34383403 |
| gwascentral | rs34383403 |
| openSNP | rs34383403 |
| 23andMe | rs34383403 |
| SNPshot | rs34383403 |
| SNPdbe | rs34383403 |
| MSV3d | rs34383403 |
| GWAS Ctlg | rs34383403 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34383403(-;-) |
| Alt | rs34383403(-;-) |
| Reference | rs34383403(TGGCCCACA;TGGCCCACA) |
| Significance | Other |
| Disease | HEMOGLOBIN BIRMINGHAM |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN BIRMINGHAM |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246839_5246847delTGTGGGCCA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016736.2, |
[PMID 2158827] Hemoglobin Birmingham and hemoglobin Galicia: two unstable beta chain variants characterized by small deletions and insertions.
