rs33917628
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33917628(A;A) |
| Make rs33917628(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226623 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33917628 |
| dbSNP (classic) | rs33917628 |
| ClinGen | rs33917628 |
| ebi | rs33917628 |
| HLI | rs33917628 |
| Exac | rs33917628 |
| Gnomad | rs33917628 |
| Varsome | rs33917628 |
| LitVar | rs33917628 |
| Map | rs33917628 |
| PheGenI | rs33917628 |
| Biobank | rs33917628 |
| 1000 genomes | rs33917628 |
| hgdp | rs33917628 |
| ensembl | rs33917628 |
| geneview | rs33917628 |
| scholar | rs33917628 |
| rs33917628 | |
| pharmgkb | rs33917628 |
| gwascentral | rs33917628 |
| openSNP | rs33917628 |
| 23andMe | rs33917628 |
| SNPshot | rs33917628 |
| SNPdbe | rs33917628 |
| MSV3d | rs33917628 |
| GWAS Ctlg | rs33917628 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33917628(A;A) rs33917628(C;C) |
| Alt | rs33917628(A;A) rs33917628(C;C) |
| Reference | Rs33917628(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN VILLAVERDE HEMOGLOBIN CRETEIL |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN VILLAVERDE HEMOGLOBIN CRETEIL |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247853C>G; NC_000011.9:g.5247853C>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016793.2, RCV000016310.2, |
[PMID 6790544] The structure of hemoglobin Creteil (beta 89 Ser replaced by Asn) is similar to that of abnormal human hemoglobins having sequence changes at Tyr 145 beta.
[PMID 8241293] Hb Villaverde [beta 89 (F5) Ser-->Thr]: the structural modification of an intrasubunit contact is responsible for a high oxygen affinity.
