rs34809449
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs34809449(C;G) |
| Make rs34809449(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5254895 |
| Gene | HBG2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34809449 |
| dbSNP (classic) | rs34809449 |
| ClinGen | rs34809449 |
| ebi | rs34809449 |
| HLI | rs34809449 |
| Exac | rs34809449 |
| Gnomad | rs34809449 |
| Varsome | rs34809449 |
| LitVar | rs34809449 |
| Map | rs34809449 |
| PheGenI | rs34809449 |
| Biobank | rs34809449 |
| 1000 genomes | rs34809449 |
| hgdp | rs34809449 |
| ensembl | rs34809449 |
| geneview | rs34809449 |
| scholar | rs34809449 |
| rs34809449 | |
| pharmgkb | rs34809449 |
| gwascentral | rs34809449 |
| openSNP | rs34809449 |
| 23andMe | rs34809449 |
| SNPshot | rs34809449 |
| SNPdbe | rs34809449 |
| MSV3d | rs34809449 |
| GWAS Ctlg | rs34809449 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34809449(A;A) rs34809449(G;G) rs34809449(T;T) |
| Alt | rs34809449(A;A) rs34809449(G;G) rs34809449(T;T) |
| Reference | Rs34809449(C;C) |
| Significance | Pathogenic |
| Disease | Fetal hemoglobin quantitative trait locus 1 |
| Variation | info |
| Gene | HBG2 |
| CLNDBN | Fetal hemoglobin quantitative trait locus 1 |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5276125G>A; NC_000011.9:g.5276125G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016130.25, RCV000016141.26, |
[PMID 7516698] The Australian type of nondeletional G gamma-HPFH has a C-->G substitution at nucleotide -114 of the G gamma gene.
[PMID 1698280
] A novel C-T transition within the distal CCAAT motif of the G gamma-globin gene in the Japanese HPFH: implication of factor binding in elevated fetal globin expression.
[PMID 10335983] A novel C-->A transversion within the distal CCAAT motif of the Ggamma-globin gene in the Algerian Ggammabeta+-hereditary persistence of fetal hemoglobin.
