rs35424040
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 4.5 | Beta Thalassemia intermedia likely; Hemoglobin beta-plus; variable clinical symptoms |
| (A;G) | 3 | Beta Thalassemia carrier; Hemoglobin beta-plus mutation |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 5226940 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35424040 |
| dbSNP (classic) | rs35424040 |
| ClinGen | rs35424040 |
| ebi | rs35424040 |
| HLI | rs35424040 |
| Exac | rs35424040 |
| Gnomad | rs35424040 |
| Varsome | rs35424040 |
| LitVar | rs35424040 |
| Map | rs35424040 |
| PheGenI | rs35424040 |
| Biobank | rs35424040 |
| 1000 genomes | rs35424040 |
| hgdp | rs35424040 |
| ensembl | rs35424040 |
| geneview | rs35424040 |
| scholar | rs35424040 |
| rs35424040 | |
| pharmgkb | rs35424040 |
| gwascentral | rs35424040 |
| openSNP | rs35424040 |
| 23andMe | rs35424040 |
| SNPshot | rs35424040 |
| SNPdbe | rs35424040 |
| MSV3d | rs35424040 |
| GWAS Ctlg | rs35424040 |
| Max Magnitude | 4.5 |
23andMe name: i6012327
| ClinVar | |
|---|---|
| Risk | Rs35424040(A;A) rs35424040(C;C) rs35424040(T;T) |
| Alt | Rs35424040(A;A) rs35424040(C;C) rs35424040(T;T) |
| Reference | Rs35424040(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN KNOSSOS Beta-plus-thalassemia Beta-knossos-thalassemia Beta Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN KNOSSOS Beta-plus-thalassemia Beta-knossos-thalassemia beta Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248170C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016439.2, RCV000016440.26, RCV000016441.26, RCV000169609.1, |
[PMID 2467892] Beta-thalassemia intermedia in two Turkish families is caused by the interaction of Hb Knossos [beta 27(B9)Ala----Ser] and of Hb City of Hope [beta 69(E13)Gly----ser] with beta (0)-thalassemia.
[PMID 3942130] Hemoglobin Knossos: a clinical, laboratory, and epidemiological study.
[PMID 3955238] Homozygous hemoglobin Knossos (alpha 2 beta 227(B9) Ala----Ser): a new variety of beta (+)-thalassemia intermedia associated with delta (0)-thalassemia.
[PMID 6733281] Abnormal processing of beta Knossos RNA.
[PMID 7104238] 'Silent' beta-thalassaemia caused by a 'silent' beta-chain mutant: the pathogenesis of a syndrome of thalassaemia intermedia.
[PMID 7173395] Structural study of hemoglobin Knossos, beta 27 (B9) Ala leads to Ser. A new abnormal hemoglobin present as a silent beta-thalassemia.
