rs33951978
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs33951978(A;C) |
| Make rs33951978(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226599 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33951978 |
| dbSNP (classic) | rs33951978 |
| ClinGen | rs33951978 |
| ebi | rs33951978 |
| HLI | rs33951978 |
| Exac | rs33951978 |
| Gnomad | rs33951978 |
| Varsome | rs33951978 |
| LitVar | rs33951978 |
| Map | rs33951978 |
| PheGenI | rs33951978 |
| Biobank | rs33951978 |
| 1000 genomes | rs33951978 |
| hgdp | rs33951978 |
| ensembl | rs33951978 |
| geneview | rs33951978 |
| scholar | rs33951978 |
| rs33951978 | |
| pharmgkb | rs33951978 |
| gwascentral | rs33951978 |
| openSNP | rs33951978 |
| 23andMe | rs33951978 |
| SNPshot | rs33951978 |
| SNPdbe | rs33951978 |
| MSV3d | rs33951978 |
| GWAS Ctlg | rs33951978 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33951978(C;C) rs33951978(T;T) |
| Alt | rs33951978(C;C) rs33951978(T;T) |
| Reference | Rs33951978(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN WOOD HEMOGLOBIN NAGOYA |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN WOOD HEMOGLOBIN NAGOYA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247829T>A; NC_000011.9:g.5247829T>G |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016643.2, RCV000016513.2, |
[PMID 36749] Comparison of hemoglobins Wood (alpha 2 beta 2 97 leu) and Malmo (alpha 2 beta 2 97 gln). Diagnostic value of citrate agar electrophoresis.
[PMID 238586] Nitrosylhemoglobin Wood: effects of inositol hexaphosphate on thiol reactivity and electron paramagnetic resonance spectrum.
[PMID 1164511] Hemoglobin Wood beta97(FG4) His replaced by Leu. A new high-oxygen-affinity hemoglobin associated with familial erythrocytosis.
[PMID 3838976] A new unstable, high oxygen affinity hemoglobin: Hb Nagoya or beta 97 (FG4) His----Pro.
