rs35511459
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs35511459(G;G) |
| Make rs35511459(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 176963 |
| Gene | HBA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35511459 |
| dbSNP (classic) | rs35511459 |
| ClinGen | rs35511459 |
| ebi | rs35511459 |
| HLI | rs35511459 |
| Exac | rs35511459 |
| Gnomad | rs35511459 |
| Varsome | rs35511459 |
| LitVar | rs35511459 |
| Map | rs35511459 |
| PheGenI | rs35511459 |
| Biobank | rs35511459 |
| 1000 genomes | rs35511459 |
| hgdp | rs35511459 |
| ensembl | rs35511459 |
| geneview | rs35511459 |
| scholar | rs35511459 |
| rs35511459 | |
| pharmgkb | rs35511459 |
| gwascentral | rs35511459 |
| openSNP | rs35511459 |
| 23andMe | rs35511459 |
| SNPshot | rs35511459 |
| SNPdbe | rs35511459 |
| MSV3d | rs35511459 |
| GWAS Ctlg | rs35511459 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35511459(G;G) |
| Alt | rs35511459(G;G) |
| Reference | Rs35511459(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN TORINO |
| Variation | info |
| Gene | HBA1 |
| CLNDBN | HEMOGLOBIN TORINO |
| Reversed | 0 |
| HGVS | NC_000016.9:g.226962T>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017169.2, |
[PMID 826080] A drug-induced haemolytic anaemia due to Hb Torino (alpha43(CD1)Phe replaced by Val). second finding in an Italian family.
[PMID 3401329] Determination of neutral haemoglobin variants by immobilized pH gradient, reversed-phase high-performance liquid chromatography and fast-atom bombardment mass spectrometry: the case of a Hb Torino alpha 43 (CE1) Phe----Val.
[PMID 3718724] Further studies on the oxygen affinity of whole blood containing two different haemoglobins: I. The case of Hb-A associated with one hypoaffine Hb.
[PMID 4041267] Functional properties of the unstable Hb-Torino: alpha 43 (CD-1) Phe-Val.
[PMID 5453914] Haemolytic anaemia due to haemoglobin Torino.
[PMID 5643522] Haemoglobin Torino--alpha-43 (CD1) phenylalanine replaced by valine.
[PMID 7177688] A new case of Hb Torino found in a Lebanese woman.
