rs28928875
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs28928875(A;A) |
| Make rs28928875(A;C) |
| Make rs28928875(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177056 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28928875 |
| dbSNP (classic) | rs28928875 |
| ClinGen | rs28928875 |
| ebi | rs28928875 |
| HLI | rs28928875 |
| Exac | rs28928875 |
| Gnomad | rs28928875 |
| Varsome | rs28928875 |
| LitVar | rs28928875 |
| Map | rs28928875 |
| PheGenI | rs28928875 |
| Biobank | rs28928875 |
| 1000 genomes | rs28928875 |
| hgdp | rs28928875 |
| ensembl | rs28928875 |
| geneview | rs28928875 |
| scholar | rs28928875 |
| rs28928875 | |
| pharmgkb | rs28928875 |
| gwascentral | rs28928875 |
| openSNP | rs28928875 |
| 23andMe | rs28928875 |
| SNPshot | rs28928875 |
| SNPdbe | rs28928875 |
| MSV3d | rs28928875 |
| GWAS Ctlg | rs28928875 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28928875(A;A) rs28928875(C;C) |
| Alt | rs28928875(A;A) rs28928875(C;C) |
| Reference | Rs28928875(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN G (PEST) HEMOGLOBIN G (TAICHUNG) HEMOGLOBIN Q HEMOGLOBIN Q (THAILAND) HEMOGLOBIN MAHIDOL HEMOGLOBIN ASABARA HEMOGLOBIN KURASHIKI Alpha Thalassemia |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN G (PEST) HEMOGLOBIN G (TAICHUNG) HEMOGLOBIN Q HEMOGLOBIN Q (THAILAND) HEMOGLOBIN MAHIDOL HEMOGLOBIN ASABARA HEMOGLOBIN KURASHIKI alpha Thalassemia |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227055G>A; NC_000016.9:g.227055G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017027.2, RCV000017028.2, RCV000017029.2, RCV000017030.2, RCV000017031.2, RCV000017032.2, RCV000017033.2, RCV000417219.1, |
[PMID 508945] The alpha-globin gene adjacent to the gene for HbQ-alpha 74 Asp replaced by His is deleted, but not that adjacent to the gene for HbG-alpha 30 Glu replaced by Gln; three-fourths of the alpha-globin genes are deleted in HbQ-alpha-thalassemia.
[PMID 640847] Hemoglobin G Taichung (alpha 74 aspartic acid replaced by histidine) heterozygotes found in two Japanese families.
[PMID 1428945] A case of -(4.2)alpha T/-(4.2) alpha Q in combination with a beta zero-thalassemia homozygosity found in a family of the Zhuang nationality in china.
[PMID 2882671] HB Q-Thailand-HB H disease in a Chinese living in Geneva, Switzerland: characterization of the variant and identification of the two alpha-thalassemic chromosomes.
[PMID 5410724] Hemoglobin G Taichung: alpha-74 Asp leads to His.
[PMID 5460202] Two haemoglobins Q, alpha-74 (EF3) and alpha-75 (EF4) aspartic acid to histidine.
[PMID 5475469] Hemoglobin Mahidol: a new hemoglobin alpha-chain mutant.
[PMID 7448125] The genetic basis of Hb Q-H disease.
[PMID 7803274] The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes.
[PMID 4550395] Multiple alpha chain loci for human haemoglobins: Hb J-Buda and Hb G-Pest.
