rs63750708
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;T) | 3 | Alpha-thalassemia allele carrier |
| (T;T) | 0 | common in complete genomics |
| Make rs63750708(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 173569 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750708 |
| dbSNP (classic) | rs63750708 |
| ClinGen | rs63750708 |
| ebi | rs63750708 |
| HLI | rs63750708 |
| Exac | rs63750708 |
| Gnomad | rs63750708 |
| Varsome | rs63750708 |
| LitVar | rs63750708 |
| Map | rs63750708 |
| PheGenI | rs63750708 |
| Biobank | rs63750708 |
| 1000 genomes | rs63750708 |
| hgdp | rs63750708 |
| ensembl | rs63750708 |
| geneview | rs63750708 |
| scholar | rs63750708 |
| rs63750708 | |
| pharmgkb | rs63750708 |
| gwascentral | rs63750708 |
| openSNP | rs63750708 |
| 23andMe | rs63750708 |
| SNPshot | rs63750708 |
| SNPdbe | rs63750708 |
| MSV3d | rs63750708 |
| GWAS Ctlg | rs63750708 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs63750708(G;G) |
| Alt | rs63750708(G;G) |
| Reference | Rs63750708(T;T) |
| Significance | Untested |
| Disease | |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223568T>G |
| CLNSRC | |
| CLNACC | |
[PMID 8493987] Unstable alpha-chain hemoglobin variants with factitious beta-thalassemia biosynthetic ratio: Hb Questembert (alpha 131[H14]Ser-->Pro) and Hb Caen (alpha 132[H15]Val-->Gly).
