rs63750404
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;G) | 3 | Alpha-thalassemia allele carrier |
| Make rs63750404(G;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 16 |
| Position | 173510 |
| Gene | HBA2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750404 |
| dbSNP (classic) | rs63750404 |
| ClinGen | rs63750404 |
| ebi | rs63750404 |
| HLI | rs63750404 |
| Exac | rs63750404 |
| Gnomad | rs63750404 |
| Varsome | rs63750404 |
| LitVar | rs63750404 |
| Map | rs63750404 |
| PheGenI | rs63750404 |
| Biobank | rs63750404 |
| 1000 genomes | rs63750404 |
| hgdp | rs63750404 |
| ensembl | rs63750404 |
| geneview | rs63750404 |
| scholar | rs63750404 |
| rs63750404 | |
| pharmgkb | rs63750404 |
| gwascentral | rs63750404 |
| openSNP | rs63750404 |
| 23andMe | rs63750404 |
| SNPshot | rs63750404 |
| SNPdbe | rs63750404 |
| MSV3d | rs63750404 |
| GWAS Ctlg | rs63750404 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs63750404(G;G) |
| Alt | rs63750404(G;G) |
| Reference | Rs63750404(C;C) |
| Significance | Pathogenic |
| Disease | Alpha Thalassemia |
| Variation | info |
| Gene | HBA2 |
| CLNDBN | alpha Thalassemia |
| Reversed | 0 |
| HGVS | NC_000016.9:g.223509C>G |
| CLNSRC | |
| CLNACC | RCV000417222.1, |
