rs76728603
From SNPedia
| Merged into | rs11549407 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 |
| Make rs76728603(A;A) |
| Make rs76728603(A;C) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 5226774 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs76728603 |
| dbSNP (classic) | rs76728603 |
| ClinGen | rs76728603 |
| ebi | rs76728603 |
| HLI | rs76728603 |
| Exac | rs76728603 |
| Gnomad | rs76728603 |
| Varsome | rs76728603 |
| LitVar | rs76728603 |
| Map | rs76728603 |
| PheGenI | rs76728603 |
| Biobank | rs76728603 |
| 1000 genomes | rs76728603 |
| hgdp | rs76728603 |
| ensembl | rs76728603 |
| geneview | rs76728603 |
| scholar | rs76728603 |
| rs76728603 | |
| pharmgkb | rs76728603 |
| gwascentral | rs76728603 |
| openSNP | rs76728603 |
| 23andMe | rs76728603 |
| SNPshot | rs76728603 |
| SNPdbe | rs76728603 |
| MSV3d | rs76728603 |
| GWAS Ctlg | rs76728603 |
| Status | Merged into rs11549407 |
| Max Magnitude | 0 |
[PMID 1115799] Two new hemoglobins. Hemoglobin Alabama (beta39(C5)Gln leads to Lys) and hemoglobin Montgomery (alpha 48(CD 6) Leu leads to Arg).
[PMID 893132] Hb Vaasa or alpha2beta2 (39(C5)Gln replaced by Glu), a mildly unstable variant found in a Finnish family.
[PMID 2200760] Beta-thalassemia in Turkey.
[PMID 6457059
] beta zero thalassemia in Sardinia is caused by a nonsense mutation.
[PMID 6985481] Nonsense and frameshift mutations in beta 0-thalassemia detected in cloned beta-globin genes.
