rs33981821
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs33981821(G;G) |
| Make rs33981821(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 172917 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33981821 |
| dbSNP (classic) | rs33981821 |
| ClinGen | rs33981821 |
| ebi | rs33981821 |
| HLI | rs33981821 |
| Exac | rs33981821 |
| Gnomad | rs33981821 |
| Varsome | rs33981821 |
| LitVar | rs33981821 |
| Map | rs33981821 |
| PheGenI | rs33981821 |
| Biobank | rs33981821 |
| 1000 genomes | rs33981821 |
| hgdp | rs33981821 |
| ensembl | rs33981821 |
| geneview | rs33981821 |
| scholar | rs33981821 |
| rs33981821 | |
| pharmgkb | rs33981821 |
| gwascentral | rs33981821 |
| openSNP | rs33981821 |
| 23andMe | rs33981821 |
| SNPshot | rs33981821 |
| SNPdbe | rs33981821 |
| MSV3d | rs33981821 |
| GWAS Ctlg | rs33981821 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33981821(A;A) rs33981821(C;C) rs33981821(G;G) |
| Alt | rs33981821(A;A) rs33981821(C;C) rs33981821(G;G) |
| Reference | Rs33981821(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN ANTANANARIVO |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | HEMOGLOBIN ANTANANARIVO |
| Reversed | 0 |
| HGVS | NC_000016.9:g.222916T>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016949.2, |
[PMID 10081983] Two hemoglobin variants with an alteration of the oxygen-linked chloride binding: Hb Antananarivo [alpha1(NA1)Val-->Gly] and Hb Barbizon [beta144(HC1)Lys-->Met].
[PMID 11891810] New alpha 2 globin chain variant with low oxygen affinity affecting the N-terminal residue and leading to N-acetylation [Hb Lyon-Bron alpha 1(NA1)Val --> Ac-Ala].
