rs35710727
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs35710727(C;C) |
| Make rs35710727(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5250055 |
| Gene | HBG1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35710727 |
| dbSNP (classic) | rs35710727 |
| ClinGen | rs35710727 |
| ebi | rs35710727 |
| HLI | rs35710727 |
| Exac | rs35710727 |
| Gnomad | rs35710727 |
| Varsome | rs35710727 |
| LitVar | rs35710727 |
| Map | rs35710727 |
| PheGenI | rs35710727 |
| Biobank | rs35710727 |
| 1000 genomes | rs35710727 |
| hgdp | rs35710727 |
| ensembl | rs35710727 |
| geneview | rs35710727 |
| scholar | rs35710727 |
| rs35710727 | |
| pharmgkb | rs35710727 |
| gwascentral | rs35710727 |
| openSNP | rs35710727 |
| 23andMe | rs35710727 |
| SNPshot | rs35710727 |
| SNPdbe | rs35710727 |
| MSV3d | rs35710727 |
| GWAS Ctlg | rs35710727 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35710727(C;C) |
| Alt | rs35710727(C;C) |
| Reference | Rs35710727(T;T) |
| Significance | Pathogenic |
| Disease | Fetal hemoglobin quantitative trait locus 1 British HPFH |
| Variation | info |
| Gene | HBG1 |
| CLNDBN | Fetal hemoglobin quantitative trait locus 1 British HPFH |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5271285A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016174.25, RCV000016175.22, |
[PMID 811241] A form of hereditary persistence of fetal haemoglobin characterized by uneven cellular distribution of haemoglobin F and the production of haemoglobins A and A2 in homozygotes.
[PMID 1373683] An A gamma globin promoter (four base-pair deletion) mutant shows linked polymorphic changes throughout the A gamma gene.
[PMID 2430647] The British form of hereditary persistence of fetal hemoglobin results from a single base mutation adjacent to an S1 hypersensitive site 5' to the A gamma globin gene.
[PMID 2458313] Hemoglobin F production in heterocellular hereditary persistence of fetal hemoglobin and its linkage to the beta globin gene complex.
