rs35225141
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (;) | 0 | common in clinvar |
| (-;-) | 0 | common in complete genomics |
| (I;I) | 0 |
| Make rs35225141(-;G) |
| Make rs35225141(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 5225720 |
| Gene | HBB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs35225141 |
| dbSNP (classic) | rs35225141 |
| ClinGen | rs35225141 |
| ebi | rs35225141 |
| HLI | rs35225141 |
| Exac | rs35225141 |
| Gnomad | rs35225141 |
| Varsome | rs35225141 |
| LitVar | rs35225141 |
| Map | rs35225141 |
| PheGenI | rs35225141 |
| Biobank | rs35225141 |
| 1000 genomes | rs35225141 |
| hgdp | rs35225141 |
| ensembl | rs35225141 |
| geneview | rs35225141 |
| scholar | rs35225141 |
| rs35225141 | |
| pharmgkb | rs35225141 |
| gwascentral | rs35225141 |
| openSNP | rs35225141 |
| 23andMe | rs35225141 |
| SNPshot | rs35225141 |
| SNPdbe | rs35225141 |
| MSV3d | rs35225141 |
| GWAS Ctlg | rs35225141 |
| Merged from | Rs606231216 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs35225141(G;G) |
| Alt | rs35225141(G;G) |
| Reference | Rs35225141(-;-) |
| Significance | Pathogenic |
| Disease | beta^0^ Thalassemia |
| Variation | info |
| Gene | HBB |
| CLNDBN | beta^0^ Thalassemia |
| Reversed | 1 |
| HGVS | NC_000011.9:g.5246951dupC |
| CLNSRC | HBVAR OMIM Allelic Variant |
| CLNACC | RCV000016668.26, |
[PMID 3683554] Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA.
