rs33932070
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33932070(A;A) |
| Make rs33932070(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226750 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33932070 |
| dbSNP (classic) | rs33932070 |
| ClinGen | rs33932070 |
| ebi | rs33932070 |
| HLI | rs33932070 |
| Exac | rs33932070 |
| Gnomad | rs33932070 |
| Varsome | rs33932070 |
| LitVar | rs33932070 |
| Map | rs33932070 |
| PheGenI | rs33932070 |
| Biobank | rs33932070 |
| 1000 genomes | rs33932070 |
| hgdp | rs33932070 |
| ensembl | rs33932070 |
| geneview | rs33932070 |
| scholar | rs33932070 |
| rs33932070 | |
| pharmgkb | rs33932070 |
| gwascentral | rs33932070 |
| openSNP | rs33932070 |
| 23andMe | rs33932070 |
| SNPshot | rs33932070 |
| SNPdbe | rs33932070 |
| MSV3d | rs33932070 |
| GWAS Ctlg | rs33932070 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33932070(A;A) rs33932070(C;C) rs33932070(T;T) |
| Alt | rs33932070(A;A) rs33932070(C;C) rs33932070(T;T) |
| Reference | Rs33932070(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN MAPUTO HEMOGLOBIN G (COPENHAGEN) |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN MAPUTO HEMOGLOBIN G (COPENHAGEN) |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247980C>A; NC_000011.9:g.5247980C>T |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016483.2, RCV000016342.3, |
[PMID 4077558] HB G-Copenhagen or alpha 2 beta 2(47) (CD6) Asp----Asn observed in a black newborn.
[PMID 6048303] Haemoglobin G Copenhagen and haemoglobin J Cambridge. Two new beta-chain variants of haemoglobin A.
[PMID 7216819] Hemoglobin G Copenhagen beta 47 (CD6) Asp leads to Asn in a Sicilian family.
[PMID 1917540] Hb Luxembourg [alpha 24(B5)Tyr----His], Hb Maputo [beta 47(CD6)Asp----Tyr], and Hb Fukuyama [beta 77(EF1)His----Tyr].
[PMID 6629824] Hemoglobin Maputo: a new beta-chain variant (alpha 2 beta 2 47 (CD6) Asp replaced by Tyr) in combination with hemoglobin S, identified by high performance liquid chromatography (HPLC).
