rs114896482
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs114896482(A;A) |
| Make rs114896482(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 19 |
| Position | 35842487 |
| Gene | NPHS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs114896482 |
| dbSNP (classic) | rs114896482 |
| ClinGen | rs114896482 |
| ebi | rs114896482 |
| HLI | rs114896482 |
| Exac | rs114896482 |
| Gnomad | rs114896482 |
| Varsome | rs114896482 |
| LitVar | rs114896482 |
| Map | rs114896482 |
| PheGenI | rs114896482 |
| Biobank | rs114896482 |
| 1000 genomes | rs114896482 |
| hgdp | rs114896482 |
| ensembl | rs114896482 |
| geneview | rs114896482 |
| scholar | rs114896482 |
| rs114896482 | |
| pharmgkb | rs114896482 |
| gwascentral | rs114896482 |
| openSNP | rs114896482 |
| 23andMe | rs114896482 |
| SNPshot | rs114896482 |
| SNPdbe | rs114896482 |
| MSV3d | rs114896482 |
| GWAS Ctlg | rs114896482 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs114896482(A;A) |
| Alt | rs114896482(A;A) |
| Reference | Rs114896482(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Hereditary nephrotic syndrome |
| Variation | info |
| Gene | NPHS1 |
| CLNDBN | Hereditary nephrotic syndrome |
| Reversed | 0 |
| HGVS | NC_000019.9:g.36333389G>A |
| CLNSRC | |
| CLNACC | RCV000208010.1, |
