rs281860601
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs281860601(C;T) |
| Make rs281860601(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5249971 |
| Gene | HBG1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs281860601 |
| dbSNP (classic) | rs281860601 |
| ClinGen | rs281860601 |
| ebi | rs281860601 |
| HLI | rs281860601 |
| Exac | rs281860601 |
| Gnomad | rs281860601 |
| Varsome | rs281860601 |
| LitVar | rs281860601 |
| Map | rs281860601 |
| PheGenI | rs281860601 |
| Biobank | rs281860601 |
| 1000 genomes | rs281860601 |
| hgdp | rs281860601 |
| ensembl | rs281860601 |
| geneview | rs281860601 |
| scholar | rs281860601 |
| rs281860601 | |
| pharmgkb | rs281860601 |
| gwascentral | rs281860601 |
| openSNP | rs281860601 |
| 23andMe | rs281860601 |
| SNPshot | rs281860601 |
| SNPdbe | rs281860601 |
| MSV3d | rs281860601 |
| GWAS Ctlg | rs281860601 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs281860601(A;A) rs281860601(T;T) |
| Alt | rs281860601(A;A) rs281860601(T;T) |
| Reference | Rs281860601(C;C) |
| Significance | Pathogenic |
| Disease | Fetal hemoglobin quantitative trait locus 1 |
| Variation | info |
| Gene | HBG1 |
| CLNDBN | Fetal hemoglobin quantitative trait locus 1 |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5271201G>A |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016179.25, |
[PMID 1704803] The Georgia type of nondeletional hereditary persistence of fetal hemoglobin has a C---T mutation at nucleotide-114 of the A gamma-globin gene.
