rs796051859
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs796051859(-;G) |
| Make rs796051859(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 10 |
| Position | 125798142 |
| Gene | UROS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs796051859 |
| dbSNP (classic) | rs796051859 |
| ClinGen | rs796051859 |
| ebi | rs796051859 |
| HLI | rs796051859 |
| Exac | rs796051859 |
| Gnomad | rs796051859 |
| Varsome | rs796051859 |
| LitVar | rs796051859 |
| Map | rs796051859 |
| PheGenI | rs796051859 |
| Biobank | rs796051859 |
| 1000 genomes | rs796051859 |
| hgdp | rs796051859 |
| ensembl | rs796051859 |
| geneview | rs796051859 |
| scholar | rs796051859 |
| rs796051859 | |
| pharmgkb | rs796051859 |
| gwascentral | rs796051859 |
| openSNP | rs796051859 |
| 23andMe | rs796051859 |
| SNPshot | rs796051859 |
| SNPdbe | rs796051859 |
| MSV3d | rs796051859 |
| GWAS Ctlg | rs796051859 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs796051859(G;G) |
| Alt | rs796051859(G;G) |
| Reference | Rs796051859(-;-) |
| Significance | Pathogenic |
| Disease | Congenital erythropoietic porphyria |
| Variation | info |
| Gene | UROS |
| CLNDBN | Congenital erythropoietic porphyria |
| Reversed | 1 |
| HGVS | NC_000010.10:g.127486712dupC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000003966.3, |
