rs33985544
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs33985544(A;C) |
| Make rs33985544(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226701 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33985544 |
| dbSNP (classic) | rs33985544 |
| ClinGen | rs33985544 |
| ebi | rs33985544 |
| HLI | rs33985544 |
| Exac | rs33985544 |
| Gnomad | rs33985544 |
| Varsome | rs33985544 |
| LitVar | rs33985544 |
| Map | rs33985544 |
| PheGenI | rs33985544 |
| Biobank | rs33985544 |
| 1000 genomes | rs33985544 |
| hgdp | rs33985544 |
| ensembl | rs33985544 |
| geneview | rs33985544 |
| scholar | rs33985544 |
| rs33985544 | |
| pharmgkb | rs33985544 |
| gwascentral | rs33985544 |
| openSNP | rs33985544 |
| 23andMe | rs33985544 |
| SNPshot | rs33985544 |
| SNPdbe | rs33985544 |
| MSV3d | rs33985544 |
| GWAS Ctlg | rs33985544 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33985544(C;C) rs33985544(G;G) |
| Alt | rs33985544(C;C) rs33985544(G;G) |
| Reference | Rs33985544(A;A) |
| Significance | Other |
| Disease | Hemoglobin Zurich HEMOGLOBIN BICETRE |
| Variation | info |
| Gene | HBB |
| CLNDBN | Hemoglobin Zurich HEMOGLOBIN BICETRE |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247931T>C; NC_000011.9:g.5247931T>G |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016654.4, RCV000016268.2, |
[PMID 6175783] First Japanese family with the unstable hemoglobin Zurich [beta 63(e7) His leads to Arg].
[PMID 9859934] Molecular diagnosis and characterization of Hb Zurich [beta63(E7)His-->Arg]] carriers in a Kentucky family.
[PMID 3753631] Hb Bicetre or alpha 2 beta(2)63(E7)His----Pro in a white male: clinical observations over a period of 25 years.
