rs63750945
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (CC;CC) | 0 | common in clinvar |
| Make rs63750945(-;-) |
| Make rs63750945(-;CC) |
| Reference | GRCh37.p5 37.3/137 |
| Chromosome | 11 |
| Position | 5248004 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750945 |
| dbSNP (classic) | rs63750945 |
| ClinGen | rs63750945 |
| ebi | rs63750945 |
| HLI | rs63750945 |
| Exac | rs63750945 |
| Gnomad | rs63750945 |
| Varsome | rs63750945 |
| LitVar | rs63750945 |
| Map | rs63750945 |
| PheGenI | rs63750945 |
| Biobank | rs63750945 |
| 1000 genomes | rs63750945 |
| hgdp | rs63750945 |
| ensembl | rs63750945 |
| geneview | rs63750945 |
| scholar | rs63750945 |
| rs63750945 | |
| pharmgkb | rs63750945 |
| gwascentral | rs63750945 |
| openSNP | rs63750945 |
| 23andMe | rs63750945 |
| SNPshot | rs63750945 |
| SNPdbe | rs63750945 |
| MSV3d | rs63750945 |
| GWAS Ctlg | rs63750945 |
| Status | Deleted |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs63750945(CC;CC) |
| Significance | Pathogenic |
| Disease | Beta Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248005_5248006delGG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | SCV000037087.1, |
