rs34975911
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs34975911(C;C) |
| Make rs34975911(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5234560 |
| Gene | HBD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34975911 |
| dbSNP (classic) | rs34975911 |
| ClinGen | rs34975911 |
| ebi | rs34975911 |
| HLI | rs34975911 |
| Exac | rs34975911 |
| Gnomad | rs34975911 |
| Varsome | rs34975911 |
| LitVar | rs34975911 |
| Map | rs34975911 |
| PheGenI | rs34975911 |
| Biobank | rs34975911 |
| 1000 genomes | rs34975911 |
| hgdp | rs34975911 |
| ensembl | rs34975911 |
| geneview | rs34975911 |
| scholar | rs34975911 |
| rs34975911 | |
| pharmgkb | rs34975911 |
| gwascentral | rs34975911 |
| openSNP | rs34975911 |
| 23andMe | rs34975911 |
| SNPshot | rs34975911 |
| SNPdbe | rs34975911 |
| MSV3d | rs34975911 |
| GWAS Ctlg | rs34975911 |
| GMAF | 0.001377 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs34975911(C;C) |
| Alt | rs34975911(C;C) |
| Reference | Rs34975911(T;T) |
| Significance | Pathogenic |
| Disease | delta Thalassemia |
| Variation | info |
| Gene | HBD |
| CLNDBN | delta Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5255790A>G |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016224.25, |
[PMID 1515647] Delta-thalassemia caused by disruption of the site for an erythroid-specific transcription factor, GATA-1, in the delta-globin gene promoter.
[PMID 3476164] A delta-globin gene derived from patients with homozygous delta zero-thalassemia functions normally on transient expression in heterologous cells.
[PMID 6158498] Homozygous delta thalassemia in Japan.
