rs41443947
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (CT;CT) | 0 | common in clinvar |
| Make rs41443947(CT;G) |
| Make rs41443947(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225698 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41443947 |
| dbSNP (classic) | rs41443947 |
| ClinGen | rs41443947 |
| ebi | rs41443947 |
| HLI | rs41443947 |
| Exac | rs41443947 |
| Gnomad | rs41443947 |
| Varsome | rs41443947 |
| LitVar | rs41443947 |
| Map | rs41443947 |
| PheGenI | rs41443947 |
| Biobank | rs41443947 |
| 1000 genomes | rs41443947 |
| hgdp | rs41443947 |
| ensembl | rs41443947 |
| geneview | rs41443947 |
| scholar | rs41443947 |
| rs41443947 | |
| pharmgkb | rs41443947 |
| gwascentral | rs41443947 |
| openSNP | rs41443947 |
| 23andMe | rs41443947 |
| SNPshot | rs41443947 |
| SNPdbe | rs41443947 |
| MSV3d | rs41443947 |
| GWAS Ctlg | rs41443947 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs41443947(G;G) |
| Alt | rs41443947(G;G) |
| Reference | Rs41443947(CT;CT) |
| Significance | Pathogenic |
| Disease | beta^0^ Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta^0^ Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246928_5246929delAGinsC |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016681.27, |
[PMID 3401599] Inclusion body beta-thalassemia trait in a Swiss family is caused by an abnormal hemoglobin (Geneva) with an altered and extended beta chain carboxy-terminus due to a modification in codon beta 114.
