rs33911434
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs33911434(C;C) |
| Make rs33911434(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226578 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33911434 |
| dbSNP (classic) | rs33911434 |
| ClinGen | rs33911434 |
| ebi | rs33911434 |
| HLI | rs33911434 |
| Exac | rs33911434 |
| Gnomad | rs33911434 |
| Varsome | rs33911434 |
| LitVar | rs33911434 |
| Map | rs33911434 |
| PheGenI | rs33911434 |
| Biobank | rs33911434 |
| 1000 genomes | rs33911434 |
| hgdp | rs33911434 |
| ensembl | rs33911434 |
| geneview | rs33911434 |
| scholar | rs33911434 |
| rs33911434 | |
| pharmgkb | rs33911434 |
| gwascentral | rs33911434 |
| openSNP | rs33911434 |
| 23andMe | rs33911434 |
| SNPshot | rs33911434 |
| SNPdbe | rs33911434 |
| MSV3d | rs33911434 |
| GWAS Ctlg | rs33911434 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33911434(A;A) rs33911434(C;C) rs33911434(T;T) |
| Alt | rs33911434(A;A) rs33911434(C;C) rs33911434(T;T) |
| Reference | Rs33911434(G;G) |
| Significance | Other |
| Disease | HEMOGLOBIN SHERWOOD FOREST |
| Variation | info |
| Gene | HBB |
| CLNDBN | HEMOGLOBIN SHERWOOD FOREST |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247808C>G |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016597.2, |
[PMID 590504] Haemoglobin Sherwood Forest beta104 (G6) Arg replaced by Thr.
[PMID 8829478] Structural determination of a new electrophoreticaly silent variant: hemoglobin Alzette, beta 104(G6)Arg --> Lys.
