rs33991472
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs33991472(C;G) |
| Make rs33991472(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226716 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs33991472 |
| dbSNP (classic) | rs33991472 |
| ClinGen | rs33991472 |
| ebi | rs33991472 |
| HLI | rs33991472 |
| Exac | rs33991472 |
| Gnomad | rs33991472 |
| Varsome | rs33991472 |
| LitVar | rs33991472 |
| Map | rs33991472 |
| PheGenI | rs33991472 |
| Biobank | rs33991472 |
| 1000 genomes | rs33991472 |
| hgdp | rs33991472 |
| ensembl | rs33991472 |
| geneview | rs33991472 |
| scholar | rs33991472 |
| rs33991472 | |
| pharmgkb | rs33991472 |
| gwascentral | rs33991472 |
| openSNP | rs33991472 |
| 23andMe | rs33991472 |
| SNPshot | rs33991472 |
| SNPdbe | rs33991472 |
| MSV3d | rs33991472 |
| GWAS Ctlg | rs33991472 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs33991472(A;A) rs33991472(G;G) |
| Alt | rs33991472(A;A) rs33991472(G;G) |
| Reference | Rs33991472(C;C) |
| Significance | Other |
| Disease | Hemoglobinopathy HEMOGLOBIN ZIGUINCHOR |
| Variation | info |
| Gene | HBB |
| CLNDBN | Hemoglobinopathy HEMOGLOBIN ZIGUINCHOR |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247946G>C |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016651.3, RCV000030905.3, |
[PMID 5684629] Haemoglobin Dhofar--a new variant from Southern Arabia.
[PMID 7786794] Haemoglobin Dhofar is linked to the codon 29 C-->T (IVS-1 nt-3) splice mutation which causes beta+ thalassaemia.
