rs386833934
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs386833934(C;T) |
Make rs386833934(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 35851339 |
Gene | KIRREL2, NPHS1 |
is a | snp |
is | mentioned by |
dbSNP | rs386833934 |
dbSNP (classic) | rs386833934 |
ClinGen | rs386833934 |
ebi | rs386833934 |
HLI | rs386833934 |
Exac | rs386833934 |
Gnomad | rs386833934 |
Varsome | rs386833934 |
LitVar | rs386833934 |
Map | rs386833934 |
PheGenI | rs386833934 |
Biobank | rs386833934 |
1000 genomes | rs386833934 |
hgdp | rs386833934 |
ensembl | rs386833934 |
geneview | rs386833934 |
scholar | rs386833934 |
rs386833934 | |
pharmgkb | rs386833934 |
gwascentral | rs386833934 |
openSNP | rs386833934 |
23andMe | rs386833934 |
SNPshot | rs386833934 |
SNPdbe | rs386833934 |
MSV3d | rs386833934 |
GWAS Ctlg | rs386833934 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833934(T;T) |
Alt | rs386833934(T;T) |
Reference | Rs386833934(C;C) |
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.36342241G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000049908.1, |
[PMID 20172850] Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).