rs34856846
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (I;I) | 0 | |
| (T;T) | 0 | common in clinvar |
| Make rs34856846(-;-) |
| Make rs34856846(-;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226986 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34856846 |
| dbSNP (classic) | rs34856846 |
| ClinGen | rs34856846 |
| ebi | rs34856846 |
| HLI | rs34856846 |
| Exac | rs34856846 |
| Gnomad | rs34856846 |
| Varsome | rs34856846 |
| LitVar | rs34856846 |
| Map | rs34856846 |
| PheGenI | rs34856846 |
| Biobank | rs34856846 |
| 1000 genomes | rs34856846 |
| hgdp | rs34856846 |
| ensembl | rs34856846 |
| geneview | rs34856846 |
| scholar | rs34856846 |
| rs34856846 | |
| pharmgkb | rs34856846 |
| gwascentral | rs34856846 |
| openSNP | rs34856846 |
| 23andMe | rs34856846 |
| SNPshot | rs34856846 |
| SNPdbe | rs34856846 |
| MSV3d | rs34856846 |
| GWAS Ctlg | rs34856846 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34856846(-;-) |
| Alt | rs34856846(-;-) |
| Reference | Rs34856846(T;T) |
| Significance | Pathogenic |
| Disease | beta^0^ Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta^0^ Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248216delA |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016679.25, |
[PMID 1769663] Molecular heterogeneity of beta-thalassemia in mestizo Mexicans.
[PMID 8619407] Haplotype analysis of the Mexican frameshift Cd 11 (-T) and -28 A->C beta-thalassemia alleles.
