rs199506378
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs199506378(G;T) |
| Make rs199506378(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 1 |
| Position | 179551435 |
| Gene | AXDND1, NPHS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199506378 |
| dbSNP (classic) | rs199506378 |
| ClinGen | rs199506378 |
| ebi | rs199506378 |
| HLI | rs199506378 |
| Exac | rs199506378 |
| Gnomad | rs199506378 |
| Varsome | rs199506378 |
| LitVar | rs199506378 |
| Map | rs199506378 |
| PheGenI | rs199506378 |
| Biobank | rs199506378 |
| 1000 genomes | rs199506378 |
| hgdp | rs199506378 |
| ensembl | rs199506378 |
| geneview | rs199506378 |
| scholar | rs199506378 |
| rs199506378 | |
| pharmgkb | rs199506378 |
| gwascentral | rs199506378 |
| openSNP | rs199506378 |
| 23andMe | rs199506378 |
| SNPshot | rs199506378 |
| SNPdbe | rs199506378 |
| MSV3d | rs199506378 |
| GWAS Ctlg | rs199506378 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199506378(A;A) rs199506378(T;T) |
| Alt | rs199506378(A;A) rs199506378(T;T) |
| Reference | Rs199506378(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Nephrotic syndrome |
| Variation | info |
| Gene | NPHS2 AXDND1 |
| CLNDBN | Nephrotic syndrome, idiopathic, steroid-resistant |
| Reversed | 0 |
| HGVS | NC_000001.10:g.179520570G>A |
| CLNSRC | |
| CLNACC | RCV000409446.1, |
