rs28933078
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs28933078(A;C) |
| Make rs28933078(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5254429 |
| Gene | HBG2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28933078 |
| dbSNP (classic) | rs28933078 |
| ClinGen | rs28933078 |
| ebi | rs28933078 |
| HLI | rs28933078 |
| Exac | rs28933078 |
| Gnomad | rs28933078 |
| Varsome | rs28933078 |
| LitVar | rs28933078 |
| Map | rs28933078 |
| PheGenI | rs28933078 |
| Biobank | rs28933078 |
| 1000 genomes | rs28933078 |
| hgdp | rs28933078 |
| ensembl | rs28933078 |
| geneview | rs28933078 |
| scholar | rs28933078 |
| rs28933078 | |
| pharmgkb | rs28933078 |
| gwascentral | rs28933078 |
| openSNP | rs28933078 |
| 23andMe | rs28933078 |
| SNPshot | rs28933078 |
| SNPdbe | rs28933078 |
| MSV3d | rs28933078 |
| GWAS Ctlg | rs28933078 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28933078(C;C) rs28933078(G;G) |
| Alt | rs28933078(C;C) rs28933078(G;G) |
| Reference | Rs28933078(A;A) |
| Significance | Other |
| Disease | HEMOGLOBIN F (EMIRATES) HEMOGLOBIN F (SACROMONTE) |
| Variation | info |
| Gene | HBG2 |
| CLNDBN | HEMOGLOBIN F (EMIRATES) HEMOGLOBIN F (SACROMONTE) |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5275659T>C; NC_000011.9:g.5275659T>G |
| CLNSRC | HBVAR OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000016137.1, RCV000016133.2, |
[PMID 7558873] Two fetal hemoglobin variants affecting the same residue: Hb F-Emirates [G gamma 59(E3)Lys-->Glu] and Hb F-Sacromonte [G gamma 59(E3)Lys-->Gln].
[PMID 7687241] Hb F-Sacromonte or alpha 2G gamma (2)59(E3)Lys-->Gln observed in a Spanish newborn and his mother.
