rs28928879
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs28928879(A;G) |
| Make rs28928879(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 177117 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28928879 |
| dbSNP (classic) | rs28928879 |
| ClinGen | rs28928879 |
| ebi | rs28928879 |
| HLI | rs28928879 |
| Exac | rs28928879 |
| Gnomad | rs28928879 |
| Varsome | rs28928879 |
| LitVar | rs28928879 |
| Map | rs28928879 |
| PheGenI | rs28928879 |
| Biobank | rs28928879 |
| 1000 genomes | rs28928879 |
| hgdp | rs28928879 |
| ensembl | rs28928879 |
| geneview | rs28928879 |
| scholar | rs28928879 |
| rs28928879 | |
| pharmgkb | rs28928879 |
| gwascentral | rs28928879 |
| openSNP | rs28928879 |
| 23andMe | rs28928879 |
| SNPshot | rs28928879 |
| SNPdbe | rs28928879 |
| MSV3d | rs28928879 |
| GWAS Ctlg | rs28928879 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28928879(C;C) rs28928879(G;G) |
| Alt | rs28928879(C;C) rs28928879(G;G) |
| Reference | Rs28928879(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN CAPA |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN CAPA |
| Reversed | 0 |
| HGVS | NC_000016.9:g.227116A>G |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000017199.2, |
[PMID 8195009] Hb Capa or alpha (2)94(G1)Asp-->Gly beta 2, a mildly unstable variant with an A-->G (GAC-->GGC) mutation in codon 94 of the alpha 1-globin gene.
[PMID 15495251] Characterization of hemoglobin bassett (alpha94Asp-->Ala), a variant with very low oxygen affinity.
