rs145195562
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs145195562(C;C) |
| Make rs145195562(C;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 45014071 |
| Gene | UROD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs145195562 |
| dbSNP (classic) | rs145195562 |
| ClinGen | rs145195562 |
| ebi | rs145195562 |
| HLI | rs145195562 |
| Exac | rs145195562 |
| Gnomad | rs145195562 |
| Varsome | rs145195562 |
| LitVar | rs145195562 |
| Map | rs145195562 |
| PheGenI | rs145195562 |
| Biobank | rs145195562 |
| 1000 genomes | rs145195562 |
| hgdp | rs145195562 |
| ensembl | rs145195562 |
| geneview | rs145195562 |
| scholar | rs145195562 |
| rs145195562 | |
| pharmgkb | rs145195562 |
| gwascentral | rs145195562 |
| openSNP | rs145195562 |
| 23andMe | rs145195562 |
| SNPshot | rs145195562 |
| SNPdbe | rs145195562 |
| MSV3d | rs145195562 |
| GWAS Ctlg | rs145195562 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs145195562(C;C) |
| Alt | rs145195562(C;C) |
| Reference | Rs145195562(G;G) |
| Significance | Pathogenic |
| Disease | Familial porphyria cutanea tarda |
| Variation | info |
| Gene | UROD |
| CLNDBN | Familial porphyria cutanea tarda |
| Reversed | 0 |
| HGVS | NC_000001.10:g.45479743G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000000085.4, |
