rs33991993
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33991993(C;C) |
| Make rs33991993(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226643 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33991993 |
| dbSNP (classic) | rs33991993 |
| ClinGen | rs33991993 |
| ebi | rs33991993 |
| HLI | rs33991993 |
| Exac | rs33991993 |
| Gnomad | rs33991993 |
| Varsome | rs33991993 |
| LitVar | rs33991993 |
| Map | rs33991993 |
| PheGenI | rs33991993 |
| Biobank | rs33991993 |
| 1000 genomes | rs33991993 |
| hgdp | rs33991993 |
| ensembl | rs33991993 |
| geneview | rs33991993 |
| scholar | rs33991993 |
| rs33991993 | |
| pharmgkb | rs33991993 |
| gwascentral | rs33991993 |
| openSNP | rs33991993 |
| 23andMe | rs33991993 |
| SNPshot | rs33991993 |
| SNPdbe | rs33991993 |
| MSV3d | rs33991993 |
| GWAS Ctlg | rs33991993 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33991993(C;C) rs33991993(T;T) |
| Alt | rs33991993(C;C) rs33991993(T;T) |
| Reference | Rs33991993(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN PROVIDENCE HEMOGLOBIN S (PROVIDENCE) |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN PROVIDENCE HEMOGLOBIN S (PROVIDENCE) |
| Reversed | 1 |
| HGVS | NC_000011.10:g.5226643C>R |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016559.1, RCV000016579.3, |
[PMID 12172] Hemoglobin providence. Functional consequences of two alterations of the 2,3-diphosphoglycerate binding site at position beta 82.
[PMID 14973
] Postsynthetic deamidation of hemoglobin Providence (beta 82 Lys replaced by Asn, Asp) and its effect on oxygen transport.
[PMID 1002699] Hemoglobin Providence. A human hemoglobin variant occurring in two forms in vivo.
