rs191807913
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs191807913(C;C) |
Make rs191807913(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 35844371 |
Gene | NPHS1 |
is a | snp |
is | mentioned by |
dbSNP | rs191807913 |
dbSNP (classic) | rs191807913 |
ClinGen | rs191807913 |
ebi | rs191807913 |
HLI | rs191807913 |
Exac | rs191807913 |
Gnomad | rs191807913 |
Varsome | rs191807913 |
LitVar | rs191807913 |
Map | rs191807913 |
PheGenI | rs191807913 |
Biobank | rs191807913 |
1000 genomes | rs191807913 |
hgdp | rs191807913 |
ensembl | rs191807913 |
geneview | rs191807913 |
scholar | rs191807913 |
rs191807913 | |
pharmgkb | rs191807913 |
gwascentral | rs191807913 |
openSNP | rs191807913 |
23andMe | rs191807913 |
SNPshot | rs191807913 |
SNPdbe | rs191807913 |
MSV3d | rs191807913 |
GWAS Ctlg | rs191807913 |
GMAF | 0.0009183 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs191807913(C;C) rs191807913(T;T) |
Alt | rs191807913(C;C) rs191807913(T;T) |
Reference | Rs191807913(G;G) |
Significance | Probable-Pathogenic |
Disease | Finnish congenital nephrotic syndrome |
Variation | info |
Gene | NPHS1 |
CLNDBN | Finnish congenital nephrotic syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.36335273G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000049871.1, |
[PMID 20172850] Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).