rs28928883
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| (C;C) | 3.5 | altered hemoglobin |
| (C;G) | 3.6 | really altered hemoglobin |
| (G;G) | 3.5 | altered hemoglobin |
| Make rs28928883(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 176970 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28928883 |
| dbSNP (classic) | rs28928883 |
| ClinGen | rs28928883 |
| ebi | rs28928883 |
| HLI | rs28928883 |
| Exac | rs28928883 |
| Gnomad | rs28928883 |
| Varsome | rs28928883 |
| LitVar | rs28928883 |
| Map | rs28928883 |
| PheGenI | rs28928883 |
| Biobank | rs28928883 |
| 1000 genomes | rs28928883 |
| hgdp | rs28928883 |
| ensembl | rs28928883 |
| geneview | rs28928883 |
| scholar | rs28928883 |
| rs28928883 | |
| pharmgkb | rs28928883 |
| gwascentral | rs28928883 |
| openSNP | rs28928883 |
| 23andMe | rs28928883 |
| SNPshot | rs28928883 |
| SNPdbe | rs28928883 |
| MSV3d | rs28928883 |
| GWAS Ctlg | rs28928883 |
| Max Magnitude | 3.6 |
| ClinVar | |
|---|---|
| Risk | Rs28928883(C;C) Rs28928883(G;G) |
| Alt | Rs28928883(C;C) Rs28928883(G;G) |
| Reference | Rs28928883(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN OITA HEMOGLOBIN FORT DE FRANCE |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN OITA HEMOGLOBIN FORT DE FRANCE |
| Reversed | 0 |
| HGVS | NC_000016.9:g.226969A>C; NC_000016.9:g.226969A>G |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017220.2, RCV000017021.2, |
[PMID 18205] Hemoglobin Fort de France (alpha2(45)(CD3) His replaced by Arg beta2). A new variant with increased oxygen affinity.
[PMID 2752146] Locus assignment of two alpha-globin structural mutants from the Caribbean basin: alpha Fort de France (alpha 45 Arg) and alpha Spanish Town (alpha 27 Val).
