rs33960103
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 5.5 | Beta Thalassemia major; Hemoglobin beta-zero; possibly transfusion dependent |
| (C;G) | 3 | Beta Thalassemia carrier; Hemoglobin beta-zero mutation; anemia possible |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226930 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33960103 |
| dbSNP (classic) | rs33960103 |
| ClinGen | rs33960103 |
| ebi | rs33960103 |
| HLI | rs33960103 |
| Exac | rs33960103 |
| Gnomad | rs33960103 |
| Varsome | rs33960103 |
| LitVar | rs33960103 |
| Map | rs33960103 |
| PheGenI | rs33960103 |
| Biobank | rs33960103 |
| 1000 genomes | rs33960103 |
| hgdp | rs33960103 |
| ensembl | rs33960103 |
| geneview | rs33960103 |
| scholar | rs33960103 |
| rs33960103 | |
| pharmgkb | rs33960103 |
| gwascentral | rs33960103 |
| openSNP | rs33960103 |
| 23andMe | rs33960103 |
| SNPshot | rs33960103 |
| SNPdbe | rs33960103 |
| MSV3d | rs33960103 |
| GWAS Ctlg | rs33960103 |
| Max Magnitude | 5.5 |
| ClinVar | |
|---|---|
| Risk | rs33960103(A;A) Rs33960103(C;C) |
| Alt | rs33960103(A;A) Rs33960103(C;C) |
| Reference | Rs33960103(G;G) |
| Significance | Pathogenic |
| Disease | Beta Thalassemia Beta thalassemia major |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta Thalassemia Beta thalassemia major |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248160C>G; NC_000011.9:g.5248160C>T |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016432.7, RCV000030007.1, RCV000030006.1, |
[PMID 1772786] Rare beta-thalassaemia mutations in Asian indians.
[PMID 10815781] Beta-thalassaemia in Cubans: novel allele increases the genetic diversity at the HBB locus in the Caribbean.
[PMID 19254853] Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population.
[PMID 20437613] Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
[PMID 21119755
] Profiling beta-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes.
[PMID 1917531] Beta-thalassemia, HB S-beta-thalassemia and sickle cell anemia among Tunisians.
[PMID 2539344] Hb Monroe or alpha 2 beta 230(B12)Arg----Thr, a variant associated with beta-thalassemia due to A G----C substitution adjacent to the donor splice site of the first intron.
[PMID 3422218] The peculiar spectrum of beta-thalassemia genes in Tunisia.
[PMID 8330981] IVS-I-1 (G-->C) in combination with -42 (C-->G) in the promoter region of the beta-globin gene in patients from Tajikistan.
[PMID 9140720] A significant beta-thalassemia heterogeneity in the United Arab Emirates.
[PMID 1802886] Hemoglobinopathies among the Gond tribal groups of central India; interaction of alpha- and beta-thalassemia with beta chain variants.
[PMID 2915972] A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia.
[PMID 2577233] The molecular basis of beta thalassaemia in Bulgaria.
