rs139598219
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs139598219(C;T) |
| Make rs139598219(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 19 |
| Position | 35850407 |
| Gene | KIRREL2, NPHS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs139598219 |
| dbSNP (classic) | rs139598219 |
| ClinGen | rs139598219 |
| ebi | rs139598219 |
| HLI | rs139598219 |
| Exac | rs139598219 |
| Gnomad | rs139598219 |
| Varsome | rs139598219 |
| LitVar | rs139598219 |
| Map | rs139598219 |
| PheGenI | rs139598219 |
| Biobank | rs139598219 |
| 1000 genomes | rs139598219 |
| hgdp | rs139598219 |
| ensembl | rs139598219 |
| geneview | rs139598219 |
| scholar | rs139598219 |
| rs139598219 | |
| pharmgkb | rs139598219 |
| gwascentral | rs139598219 |
| openSNP | rs139598219 |
| 23andMe | rs139598219 |
| SNPshot | rs139598219 |
| SNPdbe | rs139598219 |
| MSV3d | rs139598219 |
| GWAS Ctlg | rs139598219 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs139598219(A;A) rs139598219(T;T) |
| Alt | rs139598219(A;A) rs139598219(T;T) |
| Reference | Rs139598219(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Finnish congenital nephrotic syndrome |
| Variation | info |
| Gene | NPHS1 KIRREL2 |
| CLNDBN | Finnish congenital nephrotic syndrome |
| Reversed | 0 |
| HGVS | NC_000019.9:g.36341309C>A |
| CLNSRC | |
| CLNACC | RCV000169154.1, |
