rs35291591
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs35291591(A;A) |
| Make rs35291591(A;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225604 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35291591 |
| dbSNP (classic) | rs35291591 |
| ClinGen | rs35291591 |
| ebi | rs35291591 |
| HLI | rs35291591 |
| Exac | rs35291591 |
| Gnomad | rs35291591 |
| Varsome | rs35291591 |
| LitVar | rs35291591 |
| Map | rs35291591 |
| PheGenI | rs35291591 |
| Biobank | rs35291591 |
| 1000 genomes | rs35291591 |
| hgdp | rs35291591 |
| ensembl | rs35291591 |
| geneview | rs35291591 |
| scholar | rs35291591 |
| rs35291591 | |
| pharmgkb | rs35291591 |
| gwascentral | rs35291591 |
| openSNP | rs35291591 |
| 23andMe | rs35291591 |
| SNPshot | rs35291591 |
| SNPdbe | rs35291591 |
| MSV3d | rs35291591 |
| GWAS Ctlg | rs35291591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35291591(A;A) |
| Alt | rs35291591(A;A) |
| Reference | Rs35291591(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN MCKEES ROCKS |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN MCKEES ROCKS |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246834A>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016489.3, |
[PMID 629932] Proton nuclear magnetic resonance studies of hemoglobins Osler (beta145HC2 Tyr replaced by Asp) and McKee Rocks (beta145HC2 Tyr replaced by term): an assignment for an important tertiary structural probe in hemoglobin.
[PMID 1249207
] Hemoglobin McKees Rocks (alpha2beta2145Tyr leads to Term). A human "nonsense" mutation leading to a shortened beta-chain.
[PMID 6841128] A second case of hemoglobin McKees Rocks (beta 145 Tyr leads to Term). A variant with premature termination of the beta-chain.
