rs33986703
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| (A;T) | 3 | Beta Thalassemia carrier; Hemoglobin beta-zero mutation; anemia possible |
| (AA;AA) | 0 | common in clinvar |
| (T;T) | 5.5 | Beta Thalassemia major; Hemoglobin beta-zero; possibly transfusion dependent |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 5226970 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33986703 |
| dbSNP (classic) | rs33986703 |
| ClinGen | rs33986703 |
| ebi | rs33986703 |
| HLI | rs33986703 |
| Exac | rs33986703 |
| Gnomad | rs33986703 |
| Varsome | rs33986703 |
| LitVar | rs33986703 |
| Map | rs33986703 |
| PheGenI | rs33986703 |
| Biobank | rs33986703 |
| 1000 genomes | rs33986703 |
| hgdp | rs33986703 |
| ensembl | rs33986703 |
| geneview | rs33986703 |
| scholar | rs33986703 |
| rs33986703 | |
| pharmgkb | rs33986703 |
| gwascentral | rs33986703 |
| openSNP | rs33986703 |
| 23andMe | rs33986703 |
| SNPshot | rs33986703 |
| SNPdbe | rs33986703 |
| MSV3d | rs33986703 |
| GWAS Ctlg | rs33986703 |
| Merged from | Rs74576531 |
| Max Magnitude | 5.5 |
aka c.52A>T (p.Lys18Ter), a beta-zero thalassemia mutation
As noticed by OMIM, Krawczak et al. (2000) pointed out that this was the first single basepair substitution in a human gene underlying a genetic disorder to ever be reported (in [PMID 10612821]).
| ClinVar | |
|---|---|
| Risk | rs33986703(C;C) rs33986703(G;G) Rs33986703(T;T) |
| Alt | rs33986703(C;C) rs33986703(G;G) Rs33986703(T;T) |
| Reference | Rs33986703(A;A) |
| Significance | Pathogenic |
| Disease | beta^0^ Thalassemia Beta Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta^0^ Thalassemia beta Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248200T>A |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016655.28, RCV000020337.2, |
[PMID 88735
] beta 0 thalassemia, a nonsense mutation in man.
[PMID 10612821] Human gene mutation database-a biomedical information and research resource.
[PMID 9101287] Hb Nagasaki [beta 17 (A14)Lys-->Glu]: a second case found in a Japanese family.
[PMID 2737920] Some abnormal hemoglobin identifications in the U.S.S.R. by micropreparative thin layer peptide mapping.
