rs34305195
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs34305195(A;C) |
| Make rs34305195(C;C) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 5227071 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs34305195 |
| dbSNP (classic) | rs34305195 |
| ClinGen | rs34305195 |
| ebi | rs34305195 |
| HLI | rs34305195 |
| Exac | rs34305195 |
| Gnomad | rs34305195 |
| Varsome | rs34305195 |
| LitVar | rs34305195 |
| Map | rs34305195 |
| PheGenI | rs34305195 |
| Biobank | rs34305195 |
| 1000 genomes | rs34305195 |
| hgdp | rs34305195 |
| ensembl | rs34305195 |
| geneview | rs34305195 |
| scholar | rs34305195 |
| rs34305195 | |
| pharmgkb | rs34305195 |
| gwascentral | rs34305195 |
| openSNP | rs34305195 |
| 23andMe | rs34305195 |
| SNPshot | rs34305195 |
| SNPdbe | rs34305195 |
| MSV3d | rs34305195 |
| GWAS Ctlg | rs34305195 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs34305195(C;C) |
| Alt | rs34305195(C;C) |
| Reference | Rs34305195(A;A) |
| Significance | Other |
| Disease | Beta Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5248301T>G |
| CLNSRC | ClinVar GTR |
| CLNACC | RCV000029957.1, |
[PMID 914072] [Etiology of protodiastolic murmur in patients with aortic prosthesis].
[PMID 3683554] Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA.
[PMID 12709369] Rapid detection of beta-globin gene mutations and polymorphisms by temporal temperature gradient gel electrophoresis.
[PMID 18294253] Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity.
[PMID 19254853] Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population.
[PMID 21119755
] Profiling beta-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes.
