rs33931806
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33931806(C;C) |
| Make rs33931806(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225615 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33931806 |
| dbSNP (classic) | rs33931806 |
| ClinGen | rs33931806 |
| ebi | rs33931806 |
| HLI | rs33931806 |
| Exac | rs33931806 |
| Gnomad | rs33931806 |
| Varsome | rs33931806 |
| LitVar | rs33931806 |
| Map | rs33931806 |
| PheGenI | rs33931806 |
| Biobank | rs33931806 |
| 1000 genomes | rs33931806 |
| hgdp | rs33931806 |
| ensembl | rs33931806 |
| geneview | rs33931806 |
| scholar | rs33931806 |
| rs33931806 | |
| pharmgkb | rs33931806 |
| gwascentral | rs33931806 |
| openSNP | rs33931806 |
| 23andMe | rs33931806 |
| SNPshot | rs33931806 |
| SNPdbe | rs33931806 |
| MSV3d | rs33931806 |
| GWAS Ctlg | rs33931806 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33931806(A;A) rs33931806(C;C) |
| Alt | rs33931806(A;A) rs33931806(C;C) |
| Reference | Rs33931806(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN TOYOAKE |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN TOYOAKE |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246845C>G |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016628.2, |
[PMID 7419426] Unstable hemoglobins in Japan.
[PMID 7470620] Hb Toyoake: beta 142 (H20) Ala replaced by Pro. A new unstable hemoglobin with high oxygen affinity.
[PMID 12403495] Four new beta chain hemoglobin variants without clinical or hematological effects: Hb San Bruno [beta39(C5)Gln-->His]; Hb Fort Dodge [beta93(F9)Cys-Tyr]; Hb Rhode Island [beta116(G18)His-->Tyr]; and Hb Inglewood [beta142(H20)Ala-->Thr].
