rs28928878
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Alpha Thalassemia carrier |
| (G;G) | 0 | common in complete genomics |
| Make rs28928878(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177012 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28928878 |
| dbSNP (classic) | rs28928878 |
| ClinGen | rs28928878 |
| ebi | rs28928878 |
| HLI | rs28928878 |
| Exac | rs28928878 |
| Gnomad | rs28928878 |
| Varsome | rs28928878 |
| LitVar | rs28928878 |
| Map | rs28928878 |
| PheGenI | rs28928878 |
| Biobank | rs28928878 |
| 1000 genomes | rs28928878 |
| hgdp | rs28928878 |
| ensembl | rs28928878 |
| geneview | rs28928878 |
| scholar | rs28928878 |
| rs28928878 | |
| pharmgkb | rs28928878 |
| gwascentral | rs28928878 |
| openSNP | rs28928878 |
| 23andMe | rs28928878 |
| SNPshot | rs28928878 |
| SNPdbe | rs28928878 |
| MSV3d | rs28928878 |
| GWAS Ctlg | rs28928878 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs28928878(A;A) rs28928878(T;T) |
| Alt | rs28928878(A;A) rs28928878(T;T) |
| Reference | Rs28928878(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN ADANA Hemoglobin H disease HEMOGLOBIN TOTTORI |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN ADANA Hemoglobin H disease, nondeletional HEMOGLOBIN TOTTORI |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227011G>A; NC_000016.9:g.227011G>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017194.2, RCV000022600.4, RCV000017170.2, |
[PMID 7275660] Hemoglobin Tottori (alpha 59[E8] glycine replaced by valine).
[PMID 868864] alpha-Thalassemia and beta-thalassemia in a Turkish family.
[PMID 8237999] Hb Adana or alpha 2(59)(E8)Gly-->Asp beta 2, a severely unstable alpha 1-globin variant, observed in combination with the -(alpha)20.5 Kb alpha-thal-1 deletion in two Turkish patients.
[PMID 9029003] Molecular defects in Hb H hydrops fetalis.
