rs373864821
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs373864821(C;T) |
| Make rs373864821(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 10 |
| Position | 125816436 |
| Gene | UROS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs373864821 |
| dbSNP (classic) | rs373864821 |
| ClinGen | rs373864821 |
| ebi | rs373864821 |
| HLI | rs373864821 |
| Exac | rs373864821 |
| Gnomad | rs373864821 |
| Varsome | rs373864821 |
| LitVar | rs373864821 |
| Map | rs373864821 |
| PheGenI | rs373864821 |
| Biobank | rs373864821 |
| 1000 genomes | rs373864821 |
| hgdp | rs373864821 |
| ensembl | rs373864821 |
| geneview | rs373864821 |
| scholar | rs373864821 |
| rs373864821 | |
| pharmgkb | rs373864821 |
| gwascentral | rs373864821 |
| openSNP | rs373864821 |
| 23andMe | rs373864821 |
| SNPshot | rs373864821 |
| SNPdbe | rs373864821 |
| MSV3d | rs373864821 |
| GWAS Ctlg | rs373864821 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs373864821(T;T) |
| Alt | rs373864821(T;T) |
| Reference | Rs373864821(C;C) |
| Significance | Pathogenic |
| Disease | Congenital erythropoietic porphyria |
| Variation | info |
| Gene | UROS |
| CLNDBN | Congenital erythropoietic porphyria |
| Reversed | 0 |
| HGVS | NC_000010.10:g.127505005C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000003965.3, |
