rs35894115
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (;) | 0 | common in clinvar |
| (-;-) | 0 | common in complete genomics |
| Make rs35894115(-;A) |
| Make rs35894115(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5226748 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35894115 |
| dbSNP (classic) | rs35894115 |
| ClinGen | rs35894115 |
| ebi | rs35894115 |
| HLI | rs35894115 |
| Exac | rs35894115 |
| Gnomad | rs35894115 |
| Varsome | rs35894115 |
| LitVar | rs35894115 |
| Map | rs35894115 |
| PheGenI | rs35894115 |
| Biobank | rs35894115 |
| 1000 genomes | rs35894115 |
| hgdp | rs35894115 |
| ensembl | rs35894115 |
| geneview | rs35894115 |
| scholar | rs35894115 |
| rs35894115 | |
| pharmgkb | rs35894115 |
| gwascentral | rs35894115 |
| openSNP | rs35894115 |
| 23andMe | rs35894115 |
| SNPshot | rs35894115 |
| SNPdbe | rs35894115 |
| MSV3d | rs35894115 |
| GWAS Ctlg | rs35894115 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35894115(A;A) |
| Alt | rs35894115(A;A) |
| Reference | Rs35894115(-;-) |
| Significance | Pathogenic |
| Disease | Beta Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5247979dupT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000016744.27, |
[PMID 1698102] Observations on the levels of Hb A2 in patients with different beta-thalassemia mutations and a delta chain variant.
[PMID 2283303] A novel frameshift mutation [FSC 47 (+A)] causing beta-thalassemia in a Surinam patient.
