rs386833865
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs386833865(C;T) |
| Make rs386833865(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 35848708 |
| Gene | NPHS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386833865 |
| dbSNP (classic) | rs386833865 |
| ClinGen | rs386833865 |
| ebi | rs386833865 |
| HLI | rs386833865 |
| Exac | rs386833865 |
| Gnomad | rs386833865 |
| Varsome | rs386833865 |
| LitVar | rs386833865 |
| Map | rs386833865 |
| PheGenI | rs386833865 |
| Biobank | rs386833865 |
| 1000 genomes | rs386833865 |
| hgdp | rs386833865 |
| ensembl | rs386833865 |
| geneview | rs386833865 |
| scholar | rs386833865 |
| rs386833865 | |
| pharmgkb | rs386833865 |
| gwascentral | rs386833865 |
| openSNP | rs386833865 |
| 23andMe | rs386833865 |
| SNPshot | rs386833865 |
| SNPdbe | rs386833865 |
| MSV3d | rs386833865 |
| GWAS Ctlg | rs386833865 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386833865(T;T) |
| Alt | rs386833865(T;T) |
| Reference | Rs386833865(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Finnish congenital nephrotic syndrome |
| Variation | info |
| Gene | NPHS1 |
| CLNDBN | Finnish congenital nephrotic syndrome |
| Reversed | 1 |
| HGVS | NC_000019.9:g.36339610G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000049834.1, |
[PMID 9915943
] Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.
[PMID 11854170] Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.
[PMID 18503012] Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
[PMID 20172850] Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
