rs606231219
From SNPedia
| Merged into | rs35949130 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (TAAAA;TAAAA) | 0 | common in clinvar |
| Make rs606231219(-;-) |
| Make rs606231219(-;TAAAA) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 11 |
| Position | 5225484 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs606231219 |
| dbSNP (classic) | rs606231219 |
| ClinGen | rs606231219 |
| ebi | rs606231219 |
| HLI | rs606231219 |
| Exac | rs606231219 |
| Gnomad | rs606231219 |
| Varsome | rs606231219 |
| LitVar | rs606231219 |
| Map | rs606231219 |
| PheGenI | rs606231219 |
| Biobank | rs606231219 |
| 1000 genomes | rs606231219 |
| hgdp | rs606231219 |
| ensembl | rs606231219 |
| geneview | rs606231219 |
| scholar | rs606231219 |
| rs606231219 | |
| pharmgkb | rs606231219 |
| gwascentral | rs606231219 |
| openSNP | rs606231219 |
| 23andMe | rs606231219 |
| SNPshot | rs606231219 |
| SNPdbe | rs606231219 |
| MSV3d | rs606231219 |
| GWAS Ctlg | rs606231219 |
| Status | Merged into rs35949130 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs606231219(TAAAA;TAAAA) |
| Significance | Pathogenic |
| Disease | Beta-plus-thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | Beta-plus-thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246714_5246718delTTTTA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016768.26, |
