rs33914944
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33914944(C;C) |
| Make rs33914944(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226577 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33914944 |
| dbSNP (classic) | rs33914944 |
| ClinGen | rs33914944 |
| ebi | rs33914944 |
| HLI | rs33914944 |
| Exac | rs33914944 |
| Gnomad | rs33914944 |
| Varsome | rs33914944 |
| LitVar | rs33914944 |
| Map | rs33914944 |
| PheGenI | rs33914944 |
| Biobank | rs33914944 |
| 1000 genomes | rs33914944 |
| hgdp | rs33914944 |
| ensembl | rs33914944 |
| geneview | rs33914944 |
| scholar | rs33914944 |
| rs33914944 | |
| pharmgkb | rs33914944 |
| gwascentral | rs33914944 |
| openSNP | rs33914944 |
| 23andMe | rs33914944 |
| SNPshot | rs33914944 |
| SNPdbe | rs33914944 |
| MSV3d | rs33914944 |
| GWAS Ctlg | rs33914944 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33914944(C;C) rs33914944(T;T) |
| Alt | rs33914944(C;C) rs33914944(T;T) |
| Reference | Rs33914944(G;G) |
| Significance | Pathogenic |
| Disease | Hb camperdown |
| Variation | info |
| Gene | HBB |
| CLNDBN | Hb camperdown |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247807C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016789.26, |
[PMID 1138922] Haemoglobin Camperdown beta104(G6) arginine leads to serine.
[PMID 1814857] Application of reversed phase high performance liquid chromatography and plasma desorption mass spectrometry for the characterization of a hemoglobin variant.
[PMID 2606725] Inhibition of oxygen-linked anion binding in Hb Camperdown [alpha 2 beta 2(104)(G6)Arg----Ser].
