rs33940204
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs33940204(G;G) |
| Make rs33940204(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226626 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33940204 |
| dbSNP (classic) | rs33940204 |
| ClinGen | rs33940204 |
| ebi | rs33940204 |
| HLI | rs33940204 |
| Exac | rs33940204 |
| Gnomad | rs33940204 |
| Varsome | rs33940204 |
| LitVar | rs33940204 |
| Map | rs33940204 |
| PheGenI | rs33940204 |
| Biobank | rs33940204 |
| 1000 genomes | rs33940204 |
| hgdp | rs33940204 |
| ensembl | rs33940204 |
| geneview | rs33940204 |
| scholar | rs33940204 |
| rs33940204 | |
| pharmgkb | rs33940204 |
| gwascentral | rs33940204 |
| openSNP | rs33940204 |
| 23andMe | rs33940204 |
| SNPshot | rs33940204 |
| SNPdbe | rs33940204 |
| MSV3d | rs33940204 |
| GWAS Ctlg | rs33940204 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33940204(C;C) rs33940204(G;G) |
| Alt | rs33940204(C;C) rs33940204(G;G) |
| Reference | Rs33940204(T;T) |
| Significance | Other |
| Disease | HEMOGLOBIN BORAS HEMOGLOBIN SANTA ANA |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN BORAS HEMOGLOBIN SANTA ANA |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247856A>C; NC_000011.9:g.5247856A>G |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016262.2, RCV000016586.2, |
[PMID 3623976] Hb Boras or alpha 2 beta 2(88)(F4)Leu----Arg in a South African female.
[PMID 5789325] New unstable haemoglobin boras: beta 88 (F4) leucine-arginine.
[PMID 5522602] Unstable haemoglobin disease caused by Hb Santa Ana- 88 (F4) Leu leads to Pro.
[PMID 5713642
] Hereditary non-spherocytic haemolytic anaemia with post-splenectomy inclusion bodies and pigmenturia caused by an unstable haemoglobin Santa Ana-beta-88 (F4) leucine--proline.
[PMID 5780360] Three families with unstable hemoglobinopathies (Koln, Olmsted and Santa Ana) causing hemolytic anemia with inclusion bodies and pigmenturia.
[PMID 7928381] Association of Hb Santa Ana [alpha 2 beta (2)88(F4)Leu- > Pro] and Hb Porto Alegre [alpha 2 beta (2)9(A6)Ser- > Cys] in a Brazilian female.
