rs33932908
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33932908(A;A) |
| Make rs33932908(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225704 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33932908 |
| dbSNP (classic) | rs33932908 |
| ClinGen | rs33932908 |
| ebi | rs33932908 |
| HLI | rs33932908 |
| Exac | rs33932908 |
| Gnomad | rs33932908 |
| Varsome | rs33932908 |
| LitVar | rs33932908 |
| Map | rs33932908 |
| PheGenI | rs33932908 |
| Biobank | rs33932908 |
| 1000 genomes | rs33932908 |
| hgdp | rs33932908 |
| ensembl | rs33932908 |
| geneview | rs33932908 |
| scholar | rs33932908 |
| rs33932908 | |
| pharmgkb | rs33932908 |
| gwascentral | rs33932908 |
| openSNP | rs33932908 |
| 23andMe | rs33932908 |
| SNPshot | rs33932908 |
| SNPdbe | rs33932908 |
| MSV3d | rs33932908 |
| GWAS Ctlg | rs33932908 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33932908(A;A) rs33932908(T;T) |
| Alt | rs33932908(A;A) rs33932908(T;T) |
| Reference | Rs33932908(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN CANTERBURY HEMOGLOBIN YAHATA |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN CANTERBURY HEMOGLOBIN YAHATA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246934C>A; NC_000011.9:g.5246934C>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016862.2, RCV000016764.3, |
[PMID 1917530] A new abnormal variant, Hb Yahata or beta 112(G14)Cys----Tyr, found in a Japanese: structural confirmation by DNA sequencing of the beta-globin gene.
[PMID 11939514] Hb Canterbury [beta112(G14)Cys-->Phe]: a new, mildly unstable variant.
