rs143823335
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs143823335(A;A) |
| Make rs143823335(A;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 1 |
| Position | 45014012 |
| Gene | UROD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs143823335 |
| dbSNP (classic) | rs143823335 |
| ClinGen | rs143823335 |
| ebi | rs143823335 |
| HLI | rs143823335 |
| Exac | rs143823335 |
| Gnomad | rs143823335 |
| Varsome | rs143823335 |
| LitVar | rs143823335 |
| Map | rs143823335 |
| PheGenI | rs143823335 |
| Biobank | rs143823335 |
| 1000 genomes | rs143823335 |
| hgdp | rs143823335 |
| ensembl | rs143823335 |
| geneview | rs143823335 |
| scholar | rs143823335 |
| rs143823335 | |
| pharmgkb | rs143823335 |
| gwascentral | rs143823335 |
| openSNP | rs143823335 |
| 23andMe | rs143823335 |
| SNPshot | rs143823335 |
| SNPdbe | rs143823335 |
| MSV3d | rs143823335 |
| GWAS Ctlg | rs143823335 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs143823335(A;A) rs143823335(C;C) |
| Alt | rs143823335(A;A) rs143823335(C;C) |
| Reference | Rs143823335(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.45479684G>C |
| CLNSRC | |
| CLNACC | RCV000240668.1, |
