rs34945623
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs34945623(C;C) |
| Make rs34945623(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225696 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34945623 |
| dbSNP (classic) | rs34945623 |
| ClinGen | rs34945623 |
| ebi | rs34945623 |
| HLI | rs34945623 |
| Exac | rs34945623 |
| Gnomad | rs34945623 |
| Varsome | rs34945623 |
| LitVar | rs34945623 |
| Map | rs34945623 |
| PheGenI | rs34945623 |
| Biobank | rs34945623 |
| 1000 genomes | rs34945623 |
| hgdp | rs34945623 |
| ensembl | rs34945623 |
| geneview | rs34945623 |
| scholar | rs34945623 |
| rs34945623 | |
| pharmgkb | rs34945623 |
| gwascentral | rs34945623 |
| openSNP | rs34945623 |
| 23andMe | rs34945623 |
| SNPshot | rs34945623 |
| SNPdbe | rs34945623 |
| MSV3d | rs34945623 |
| GWAS Ctlg | rs34945623 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34945623(C;C) |
| Alt | rs34945623(C;C) |
| Reference | Rs34945623(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN MADRID |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN MADRID |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246926C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016478.2, |
[PMID 4212046] Haemoglobin Madrid beta 115 (G17) alanine--proline: an unstable variant associated with haemolytic anaemia.
[PMID 8330978] Hb Madrid or alpha 2 beta (2)115(G17)Ala-->Pro in a black teenager.
[PMID 10870884] Hb Madrid [beta115(G17)Ala-->Pro] in a Korean family with chronic hemolytic anemia.
