rs281864900
From SNPedia
| Merged into | rs80356821 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 5.5 | Beta Thalassemia major; Hemoglobin beta-zero; possibly transfusion dependent |
| (-;CTTT) | 3 | Beta Thalassemia carrier; Hemoglobin beta-zero mutation; anemia possible |
| (CTTT;CTTT) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226763 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs281864900 |
| dbSNP (classic) | rs281864900 |
| ClinGen | rs281864900 |
| ebi | rs281864900 |
| HLI | rs281864900 |
| Exac | rs281864900 |
| Gnomad | rs281864900 |
| Varsome | rs281864900 |
| LitVar | rs281864900 |
| Map | rs281864900 |
| PheGenI | rs281864900 |
| Biobank | rs281864900 |
| 1000 genomes | rs281864900 |
| hgdp | rs281864900 |
| ensembl | rs281864900 |
| geneview | rs281864900 |
| scholar | rs281864900 |
| rs281864900 | |
| pharmgkb | rs281864900 |
| gwascentral | rs281864900 |
| openSNP | rs281864900 |
| 23andMe | rs281864900 |
| SNPshot | rs281864900 |
| SNPdbe | rs281864900 |
| MSV3d | rs281864900 |
| GWAS Ctlg | rs281864900 |
| Status | Merged into rs80356821 |
| Max Magnitude | 5.5 |
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs281864900(CTTT;CTTT) |
| Significance | Pathogenic |
| Disease | beta^0^ Thalassemia Alpha Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta^0^ Thalassemia alpha Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247993_5247996delAAAG |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016673.26, RCV000020328.1, |
[PMID 6826539] Structural analysis of a beta-thalassemia gene found in Taiwan.
[PMID 21250879] Molecular spectrum of α- and β-globin gene mutations detected in the population of Guangxi Zhuang Autonomous Region, People's Republic of China.
[PMID 20113289] Molecular epidemiology investigation of beta-thalassemia in Zhongshan City, Guangdong Province, People's Republic of China.
