rs35553496
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| (AC;AC) | 0 | common in clinvar |
| Make rs35553496(A;C) |
| Make rs35553496(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226630 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35553496 |
| dbSNP (classic) | rs35553496 |
| ClinGen | rs35553496 |
| ebi | rs35553496 |
| HLI | rs35553496 |
| Exac | rs35553496 |
| Gnomad | rs35553496 |
| Varsome | rs35553496 |
| LitVar | rs35553496 |
| Map | rs35553496 |
| PheGenI | rs35553496 |
| Biobank | rs35553496 |
| 1000 genomes | rs35553496 |
| hgdp | rs35553496 |
| ensembl | rs35553496 |
| geneview | rs35553496 |
| scholar | rs35553496 |
| rs35553496 | |
| pharmgkb | rs35553496 |
| gwascentral | rs35553496 |
| openSNP | rs35553496 |
| 23andMe | rs35553496 |
| SNPshot | rs35553496 |
| SNPdbe | rs35553496 |
| MSV3d | rs35553496 |
| GWAS Ctlg | rs35553496 |
| Merged from | Rs121909825 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35553496(C;C) |
| Alt | rs35553496(C;C) |
| Reference | Rs35553496(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN VALLETTA Beta Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN VALLETTA beta Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247860T>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016749.2, RCV000029973.1, |
[PMID 1709134] The linkage of Hb Valletta [alpha 2 beta 287(f3)Thr----Pro] and Hb F-Malta-I [alpha 2G gamma 2117(G19)His----Arg] in the Maltese population.
[PMID 9028827] Hb Valletta [beta 87(F3)Thr-->Pro] due to an A-->C substitution at codon 87 in a Calabrian family with alpha-thalassemia.
[PMID 17145605] Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations.
[PMID 21194254] First report on the co-inheritance of beta-globin IVS-I-5 (G-->C) thalassemia with delta globin CD12 {Asn-->Lys (AAT-->AAA)}HbA(2)-NYU in Iran.
