rs530318579
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs530318579(C;T) |
| Make rs530318579(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 179559710 |
| Gene | NPHS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs530318579 |
| dbSNP (classic) | rs530318579 |
| ClinGen | rs530318579 |
| ebi | rs530318579 |
| HLI | rs530318579 |
| Exac | rs530318579 |
| Gnomad | rs530318579 |
| Varsome | rs530318579 |
| LitVar | rs530318579 |
| Map | rs530318579 |
| PheGenI | rs530318579 |
| Biobank | rs530318579 |
| 1000 genomes | rs530318579 |
| hgdp | rs530318579 |
| ensembl | rs530318579 |
| geneview | rs530318579 |
| scholar | rs530318579 |
| rs530318579 | |
| pharmgkb | rs530318579 |
| gwascentral | rs530318579 |
| openSNP | rs530318579 |
| 23andMe | rs530318579 |
| SNPshot | rs530318579 |
| SNPdbe | rs530318579 |
| MSV3d | rs530318579 |
| GWAS Ctlg | rs530318579 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs530318579(T;T) |
| Alt | rs530318579(T;T) |
| Reference | Rs530318579(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Nephrotic syndrome |
| Variation | info |
| Gene | NPHS2 |
| CLNDBN | Nephrotic syndrome, idiopathic, steroid-resistant |
| Reversed | 0 |
| HGVS | NC_000001.10:g.179528845C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000169033.1, |
