rs28928889
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| (C;T) | 3 | Alpha-thalassemia allele carrier |
| Make rs28928889(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173503 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28928889 |
| dbSNP (classic) | rs28928889 |
| ClinGen | rs28928889 |
| ebi | rs28928889 |
| HLI | rs28928889 |
| Exac | rs28928889 |
| Gnomad | rs28928889 |
| Varsome | rs28928889 |
| LitVar | rs28928889 |
| Map | rs28928889 |
| PheGenI | rs28928889 |
| Biobank | rs28928889 |
| 1000 genomes | rs28928889 |
| hgdp | rs28928889 |
| ensembl | rs28928889 |
| geneview | rs28928889 |
| scholar | rs28928889 |
| rs28928889 | |
| pharmgkb | rs28928889 |
| gwascentral | rs28928889 |
| openSNP | rs28928889 |
| 23andMe | rs28928889 |
| SNPshot | rs28928889 |
| SNPdbe | rs28928889 |
| MSV3d | rs28928889 |
| GWAS Ctlg | rs28928889 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs28928889(A;A) rs28928889(T;T) |
| Alt | rs28928889(A;A) rs28928889(T;T) |
| Reference | Rs28928889(C;C) |
| Significance | Other |
| Disease | HEMOGLOBIN ANAMOSA |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | HEMOGLOBIN ANAMOSA |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223502C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016940.1, |
[PMID 7470621] Hemoglobin Petah Tikva (alpha 110 ala replaced by asp): a new unstable variant with alpha-thalassemia-like expression.
