rs33933481
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33933481(A;A) |
| Make rs33933481(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173550 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33933481 |
| dbSNP (classic) | rs33933481 |
| ClinGen | rs33933481 |
| ebi | rs33933481 |
| HLI | rs33933481 |
| Exac | rs33933481 |
| Gnomad | rs33933481 |
| Varsome | rs33933481 |
| LitVar | rs33933481 |
| Map | rs33933481 |
| PheGenI | rs33933481 |
| Biobank | rs33933481 |
| 1000 genomes | rs33933481 |
| hgdp | rs33933481 |
| ensembl | rs33933481 |
| geneview | rs33933481 |
| scholar | rs33933481 |
| rs33933481 | |
| pharmgkb | rs33933481 |
| gwascentral | rs33933481 |
| openSNP | rs33933481 |
| 23andMe | rs33933481 |
| SNPshot | rs33933481 |
| SNPdbe | rs33933481 |
| MSV3d | rs33933481 |
| GWAS Ctlg | rs33933481 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33933481(A;A) rs33933481(C;C) rs33933481(T;T) |
| Alt | rs33933481(A;A) rs33933481(C;C) rs33933481(T;T) |
| Reference | Rs33933481(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN TARRANT |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | HEMOGLOBIN TARRANT |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223549G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016948.1, |
[PMID 13856] Hemoglobin Tarrant: alpha126(H9) Asp leads to Asn. A new hemoglobin variant in the alpha1beta1 contact region showing high oxygen affinity and reduced cooperativity.
[PMID 7019159] Heterozygosity and homozygosity for the high oxygen affinity hemoglobin Tarrant or alpha 126 (H9) Asp replaced by Asn in two Mexican families.
