rs33945546
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs33945546(G;G) |
| Make rs33945546(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226951 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33945546 |
| dbSNP (classic) | rs33945546 |
| ClinGen | rs33945546 |
| ebi | rs33945546 |
| HLI | rs33945546 |
| Exac | rs33945546 |
| Gnomad | rs33945546 |
| Varsome | rs33945546 |
| LitVar | rs33945546 |
| Map | rs33945546 |
| PheGenI | rs33945546 |
| Biobank | rs33945546 |
| 1000 genomes | rs33945546 |
| hgdp | rs33945546 |
| ensembl | rs33945546 |
| geneview | rs33945546 |
| scholar | rs33945546 |
| rs33945546 | |
| pharmgkb | rs33945546 |
| gwascentral | rs33945546 |
| openSNP | rs33945546 |
| 23andMe | rs33945546 |
| SNPshot | rs33945546 |
| SNPdbe | rs33945546 |
| MSV3d | rs33945546 |
| GWAS Ctlg | rs33945546 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33945546(A;A) rs33945546(C;C) rs33945546(G;G) |
| Alt | rs33945546(A;A) rs33945546(C;C) rs33945546(G;G) |
| Reference | Rs33945546(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN MIYASHIRO HEMOGLOBIN ZOETERWOUDE HEMOGLOBIN STRASBOURG |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN MIYASHIRO HEMOGLOBIN ZOETERWOUDE HEMOGLOBIN STRASBOURG |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248181A>C; NC_000011.9:g.5248181A>G; NC_000011.9:g.5248181A>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016496.2, RCV000016885.3, RCV000016608.2, |
[PMID 11130] Characterization of beta-D-N-acetylhexosaminidases C and S in fibroplasts from control individuals and patients with Tay-Sachs disease.
[PMID 27380] Haemoglobin Strasbourg alpha2beta2 23 (B5) Val replaced by Asp: revised structure anf functional properties.
[PMID 9494050] Hb Strasbourg [beta 23(B5)Val-->Asp]; a high oxygen affinity variant observed in a German family.
[PMID 7338468] Hemoglobin Miyashiro (beta 23[B5] val substituting for gly) an electrophoretically silent variant discovered by the isopropanol test.
[PMID 15768551] Hb zoeterwoude [beta23(B5)Val-->Ala)]: a new beta-globin variant found in association with erythrocytosis.
