rs28928881
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs28928881(G;T) |
| Make rs28928881(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177352 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28928881 |
| dbSNP (classic) | rs28928881 |
| ClinGen | rs28928881 |
| ebi | rs28928881 |
| HLI | rs28928881 |
| Exac | rs28928881 |
| Gnomad | rs28928881 |
| Varsome | rs28928881 |
| LitVar | rs28928881 |
| Map | rs28928881 |
| PheGenI | rs28928881 |
| Biobank | rs28928881 |
| 1000 genomes | rs28928881 |
| hgdp | rs28928881 |
| ensembl | rs28928881 |
| geneview | rs28928881 |
| scholar | rs28928881 |
| rs28928881 | |
| pharmgkb | rs28928881 |
| gwascentral | rs28928881 |
| openSNP | rs28928881 |
| 23andMe | rs28928881 |
| SNPshot | rs28928881 |
| SNPdbe | rs28928881 |
| MSV3d | rs28928881 |
| GWAS Ctlg | rs28928881 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28928881(A;A) rs28928881(C;C) rs28928881(T;T) |
| Alt | rs28928881(A;A) rs28928881(C;C) rs28928881(T;T) |
| Reference | Rs28928881(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN MALHACEN |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN MALHACEN |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227351G>T |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000017210.2, |
[PMID 7615398] Hb Anamosa or alpha 2(111)(G18)Ala-->Val beta 2 (alpha 2 mutation) and Hb Mulhacen or alpha 2(123)(H6)Ala-->Ser beta 2 (alpha 1 mutation) are two silent, stable variants detected by sequencing of amplified DNA.
