rs35117167
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs35117167(A;G) |
| Make rs35117167(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225605 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35117167 |
| dbSNP (classic) | rs35117167 |
| ClinGen | rs35117167 |
| ebi | rs35117167 |
| HLI | rs35117167 |
| Exac | rs35117167 |
| Gnomad | rs35117167 |
| Varsome | rs35117167 |
| LitVar | rs35117167 |
| Map | rs35117167 |
| PheGenI | rs35117167 |
| Biobank | rs35117167 |
| 1000 genomes | rs35117167 |
| hgdp | rs35117167 |
| ensembl | rs35117167 |
| geneview | rs35117167 |
| scholar | rs35117167 |
| rs35117167 | |
| pharmgkb | rs35117167 |
| gwascentral | rs35117167 |
| openSNP | rs35117167 |
| 23andMe | rs35117167 |
| SNPshot | rs35117167 |
| SNPdbe | rs35117167 |
| MSV3d | rs35117167 |
| GWAS Ctlg | rs35117167 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35117167(G;G) |
| Alt | rs35117167(G;G) |
| Reference | Rs35117167(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN RAINIER |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN RAINIER |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246835T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016562.3, |
[PMID 478981] Hb Rainier or alpha 2 beta 2 (145 (HC2) Tyr replaced by Cys) observed in members of a Canadian family of Greek origin.
[PMID 3793825] Isolation of human haemoglobin variants with altered Bohr effect. Application to haemoglobin Rainier.
[PMID 5019947] Oxygen equilibrium and circular dichroism of hemoglobin-Rainer ( 2 2 1 45Tyr leads to Cys).
[PMID 5796352
] Erythrocytosis associated with hemoglobin Rainier: oxygen equilibria and marrow regulation.
[PMID 10335979] Hb Rainier [beta145(HC2)Tyr-->Cys] in Italy. Characterization of the amino acid substitution and the DNA mutation.
