rs12568913
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs12568913(A;A) |
| Make rs12568913(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 179557179 |
| Gene | NPHS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12568913 |
| dbSNP (classic) | rs12568913 |
| ClinGen | rs12568913 |
| ebi | rs12568913 |
| HLI | rs12568913 |
| Exac | rs12568913 |
| Gnomad | rs12568913 |
| Varsome | rs12568913 |
| LitVar | rs12568913 |
| Map | rs12568913 |
| PheGenI | rs12568913 |
| Biobank | rs12568913 |
| 1000 genomes | rs12568913 |
| hgdp | rs12568913 |
| ensembl | rs12568913 |
| geneview | rs12568913 |
| scholar | rs12568913 |
| rs12568913 | |
| pharmgkb | rs12568913 |
| gwascentral | rs12568913 |
| openSNP | rs12568913 |
| 23andMe | rs12568913 |
| SNPshot | rs12568913 |
| SNPdbe | rs12568913 |
| MSV3d | rs12568913 |
| GWAS Ctlg | rs12568913 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs12568913(A;A) rs12568913(C;C) |
| Alt | rs12568913(A;A) rs12568913(C;C) |
| Reference | Rs12568913(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Nephrotic syndrome |
| Variation | info |
| Gene | NPHS2 |
| CLNDBN | Nephrotic syndrome, idiopathic, steroid-resistant |
| Reversed | 0 |
| HGVS | NC_000001.10:g.179526314G>A |
| CLNSRC | Counsyl |
| CLNACC | RCV000169250.1, |
