rs386833947
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CCA;CCA) | 0 | common in clinvar |
Make rs386833947(-;-) |
Make rs386833947(-;CCA) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 35850970 |
Gene | KIRREL2, NPHS1 |
is a | snp |
is | mentioned by |
dbSNP | rs386833947 |
dbSNP (classic) | rs386833947 |
ClinGen | rs386833947 |
ebi | rs386833947 |
HLI | rs386833947 |
Exac | rs386833947 |
Gnomad | rs386833947 |
Varsome | rs386833947 |
LitVar | rs386833947 |
Map | rs386833947 |
PheGenI | rs386833947 |
Biobank | rs386833947 |
1000 genomes | rs386833947 |
hgdp | rs386833947 |
ensembl | rs386833947 |
geneview | rs386833947 |
scholar | rs386833947 |
rs386833947 | |
pharmgkb | rs386833947 |
gwascentral | rs386833947 |
openSNP | rs386833947 |
23andMe | rs386833947 |
SNPshot | rs386833947 |
SNPdbe | rs386833947 |
MSV3d | rs386833947 |
GWAS Ctlg | rs386833947 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833947(-;-) |
Alt | rs386833947(-;-) |
Reference | Rs386833947(CCA;CCA) |
Significance | Probable-Pathogenic |
Disease | Finnish congenital nephrotic syndrome |
Variation | info |
Gene | NPHS1 KIRREL2 |
CLNDBN | Finnish congenital nephrotic syndrome |
Reversed | 1 |
HGVS | NC_000019.9:g.36341872_36341874delTGG |
CLNSRC | ClinVar |
CLNACC | RCV000049922.2, |
[PMID 9915943] Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.
[PMID 11317351] Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.
[PMID 11854170] Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.
[PMID 20172850] Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).