rs33982568
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| (CC;CC) | 0 | common in clinvar |
| Make rs33982568(A;A) |
| Make rs33982568(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226784 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33982568 |
| dbSNP (classic) | rs33982568 |
| ClinGen | rs33982568 |
| ebi | rs33982568 |
| HLI | rs33982568 |
| Exac | rs33982568 |
| Gnomad | rs33982568 |
| Varsome | rs33982568 |
| LitVar | rs33982568 |
| Map | rs33982568 |
| PheGenI | rs33982568 |
| Biobank | rs33982568 |
| 1000 genomes | rs33982568 |
| hgdp | rs33982568 |
| ensembl | rs33982568 |
| geneview | rs33982568 |
| scholar | rs33982568 |
| rs33982568 | |
| pharmgkb | rs33982568 |
| gwascentral | rs33982568 |
| openSNP | rs33982568 |
| 23andMe | rs33982568 |
| SNPshot | rs33982568 |
| SNPdbe | rs33982568 |
| MSV3d | rs33982568 |
| GWAS Ctlg | rs33982568 |
| Merged from | Rs121909823 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33982568(A;A) rs33982568(T;T) |
| Alt | rs33982568(A;A) rs33982568(T;T) |
| Reference | Rs33982568(C;C) |
| Significance | Pathogenic |
| Disease | beta^0^ Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta^0^ Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248014G>T |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016662.26, |
[PMID 2393018
] The molecular basis of beta-thalassemia in Thailand: application to prenatal diagnosis.
[PMID 2542242] A novel ochre mutation in the beta-thalassemia gene of a Thai. Identification by direct cloning of the entire beta-globin gene amplified using polymerase chain reactions.
