rs41417446
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (I;I) | 0 | |
| (TTT;TTT) | 0 | common in clinvar |
| Make rs41417446(-;-) |
| Make rs41417446(-;TTT) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 5226763 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41417446 |
| dbSNP (classic) | rs41417446 |
| ClinGen | rs41417446 |
| ebi | rs41417446 |
| HLI | rs41417446 |
| Exac | rs41417446 |
| Gnomad | rs41417446 |
| Varsome | rs41417446 |
| LitVar | rs41417446 |
| Map | rs41417446 |
| PheGenI | rs41417446 |
| Biobank | rs41417446 |
| 1000 genomes | rs41417446 |
| hgdp | rs41417446 |
| ensembl | rs41417446 |
| geneview | rs41417446 |
| scholar | rs41417446 |
| rs41417446 | |
| pharmgkb | rs41417446 |
| gwascentral | rs41417446 |
| openSNP | rs41417446 |
| 23andMe | rs41417446 |
| SNPshot | rs41417446 |
| SNPdbe | rs41417446 |
| MSV3d | rs41417446 |
| GWAS Ctlg | rs41417446 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs41417446(-;-) |
| Alt | rs41417446(-;-) |
| Reference | Rs41417446(TTT;TTT) |
| Significance | Pathogenic |
| Disease | Hemoglobinopathy Heinz body anemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | Hemoglobinopathy Heinz body anemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247993_5247995delAAA |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016277.3, RCV000016278.26, |
