rs35854892
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs35854892(G;G) |
| Make rs35854892(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225617 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35854892 |
| dbSNP (classic) | rs35854892 |
| ClinGen | rs35854892 |
| ebi | rs35854892 |
| HLI | rs35854892 |
| Exac | rs35854892 |
| Gnomad | rs35854892 |
| Varsome | rs35854892 |
| LitVar | rs35854892 |
| Map | rs35854892 |
| PheGenI | rs35854892 |
| Biobank | rs35854892 |
| 1000 genomes | rs35854892 |
| hgdp | rs35854892 |
| ensembl | rs35854892 |
| geneview | rs35854892 |
| scholar | rs35854892 |
| rs35854892 | |
| pharmgkb | rs35854892 |
| gwascentral | rs35854892 |
| openSNP | rs35854892 |
| 23andMe | rs35854892 |
| SNPshot | rs35854892 |
| SNPdbe | rs35854892 |
| MSV3d | rs35854892 |
| GWAS Ctlg | rs35854892 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35854892(G;G) |
| Alt | rs35854892(G;G) |
| Reference | Rs35854892(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN OLMSTED |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN OLMSTED |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246847A>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016531.3, |
[PMID 1125274] The amino acid substitution in Hb Olmsted: beta141 (H19) leucine yields arginine.
[PMID 5780360] Three families with unstable hemoglobinopathies (Koln, Olmsted and Santa Ana) causing hemolytic anemia with inclusion bodies and pigmenturia.
[PMID 9136923] Thromboembolic complication of splenectomy in unstable hemoglobin disorders: Hb Olmsted, Hb Koln.
