rs33930702
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33930702(A;A) |
| Make rs33930702(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5227019 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33930702 |
| dbSNP (classic) | rs33930702 |
| ClinGen | rs33930702 |
| ebi | rs33930702 |
| HLI | rs33930702 |
| Exac | rs33930702 |
| Gnomad | rs33930702 |
| Varsome | rs33930702 |
| LitVar | rs33930702 |
| Map | rs33930702 |
| PheGenI | rs33930702 |
| Biobank | rs33930702 |
| 1000 genomes | rs33930702 |
| hgdp | rs33930702 |
| ensembl | rs33930702 |
| geneview | rs33930702 |
| scholar | rs33930702 |
| rs33930702 | |
| pharmgkb | rs33930702 |
| gwascentral | rs33930702 |
| openSNP | rs33930702 |
| 23andMe | rs33930702 |
| SNPshot | rs33930702 |
| SNPdbe | rs33930702 |
| MSV3d | rs33930702 |
| GWAS Ctlg | rs33930702 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33930702(A;A) rs33930702(C;C) rs33930702(T;T) |
| Alt | rs33930702(A;A) rs33930702(C;C) rs33930702(T;T) |
| Reference | Rs33930702(G;G) |
| Significance | Pathogenic |
| Disease | beta^0^ Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta^0^ Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248249C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016783.27, |
[PMID 1301952] A novel beta-thalassemia mutation (G-->A) at the initiation codon of the beta-globin gene.
[PMID 7864023] Initiation codon mutation (ATG --> ATA) of the beta-globin gene causing beta-thalassemia in a Swedish family.
[PMID 9101288] beta-thalassemia mutations in Japanese and Koreans.
[PMID 8718703] Molecular analyses of beta-thalassemia in Iran.
