rs36049074
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs36049074(A;G) |
| Make rs36049074(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5253368 |
| Gene | HBG2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs36049074 |
| dbSNP (classic) | rs36049074 |
| ClinGen | rs36049074 |
| ebi | rs36049074 |
| HLI | rs36049074 |
| Exac | rs36049074 |
| Gnomad | rs36049074 |
| Varsome | rs36049074 |
| LitVar | rs36049074 |
| Map | rs36049074 |
| PheGenI | rs36049074 |
| Biobank | rs36049074 |
| 1000 genomes | rs36049074 |
| hgdp | rs36049074 |
| ensembl | rs36049074 |
| geneview | rs36049074 |
| scholar | rs36049074 |
| rs36049074 | |
| pharmgkb | rs36049074 |
| gwascentral | rs36049074 |
| openSNP | rs36049074 |
| 23andMe | rs36049074 |
| SNPshot | rs36049074 |
| SNPdbe | rs36049074 |
| MSV3d | rs36049074 |
| GWAS Ctlg | rs36049074 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs36049074(G;G) |
| Alt | rs36049074(G;G) |
| Reference | Rs36049074(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN F (MALTA) |
| Variation | info |
| Gene | HBG2 |
| CLNDBN | HEMOGLOBIN F (MALTA) |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5274598T>C |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016110.1, |
[PMID 588240] Detection and quantitation of the fetal hemoglobin variant Hb F-Malta-I in adults.
[PMID 1709134] The linkage of Hb Valletta [alpha 2 beta 287(f3)Thr----Pro] and Hb F-Malta-I [alpha 2G gamma 2117(G19)His----Arg] in the Maltese population.
[PMID 5792729] Haemoglobin F(Malta): a new foetal haemoglobin variant with a high incidence in Maltese infants.
