rs121917773
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs121917773(C;C) |
| Make rs121917773(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 20348253 |
| Gene | UMOD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121917773 |
| dbSNP (classic) | rs121917773 |
| ClinGen | rs121917773 |
| ebi | rs121917773 |
| HLI | rs121917773 |
| Exac | rs121917773 |
| Gnomad | rs121917773 |
| Varsome | rs121917773 |
| LitVar | rs121917773 |
| Map | rs121917773 |
| PheGenI | rs121917773 |
| Biobank | rs121917773 |
| 1000 genomes | rs121917773 |
| hgdp | rs121917773 |
| ensembl | rs121917773 |
| geneview | rs121917773 |
| scholar | rs121917773 |
| rs121917773 | |
| pharmgkb | rs121917773 |
| gwascentral | rs121917773 |
| openSNP | rs121917773 |
| 23andMe | rs121917773 |
| SNPshot | rs121917773 |
| SNPdbe | rs121917773 |
| MSV3d | rs121917773 |
| GWAS Ctlg | rs121917773 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121917773(C;C) |
| Alt | rs121917773(C;C) |
| Reference | Rs121917773(T;T) |
| Significance | Pathogenic |
| Disease | Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
| Variation | info |
| Gene | UMOD |
| CLNDBN | Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
| Reversed | 1 |
| HGVS | NC_000016.9:g.20359575A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013050.23, |
