rs143092783
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs143092783(G;T) |
Make rs143092783(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 35831116 |
Gene | NPHS1 |
is a | snp |
is | mentioned by |
dbSNP | rs143092783 |
dbSNP (classic) | rs143092783 |
ClinGen | rs143092783 |
ebi | rs143092783 |
HLI | rs143092783 |
Exac | rs143092783 |
Gnomad | rs143092783 |
Varsome | rs143092783 |
LitVar | rs143092783 |
Map | rs143092783 |
PheGenI | rs143092783 |
Biobank | rs143092783 |
1000 genomes | rs143092783 |
hgdp | rs143092783 |
ensembl | rs143092783 |
geneview | rs143092783 |
scholar | rs143092783 |
rs143092783 | |
pharmgkb | rs143092783 |
gwascentral | rs143092783 |
openSNP | rs143092783 |
23andMe | rs143092783 |
SNPshot | rs143092783 |
SNPdbe | rs143092783 |
MSV3d | rs143092783 |
GWAS Ctlg | rs143092783 |
GMAF | 0.001837 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs143092783(A;A) rs143092783(T;T) |
Alt | rs143092783(A;A) rs143092783(T;T) |
Reference | Rs143092783(G;G) |
Significance | Probable-Pathogenic |
Disease | Finnish congenital nephrotic syndrome not specified |
Variation | info |
Gene | NPHS1 |
CLNDBN | Finnish congenital nephrotic syndrome not specified |
Reversed | 0 |
HGVS | NC_000019.9:g.36322018G>A; NC_000019.9:g.36322018G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000049913.1, RCV000251305.1, |
[PMID 9915943] Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.
[PMID 20172850] Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).