rs386833870
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CG;CG) | 0 | common in clinvar |
Make rs386833870(-;-) |
Make rs386833870(-;CG) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 35848671 |
Gene | NPHS1 |
is a | snp |
is | mentioned by |
dbSNP | rs386833870 |
dbSNP (classic) | rs386833870 |
ClinGen | rs386833870 |
ebi | rs386833870 |
HLI | rs386833870 |
Exac | rs386833870 |
Gnomad | rs386833870 |
Varsome | rs386833870 |
LitVar | rs386833870 |
Map | rs386833870 |
PheGenI | rs386833870 |
Biobank | rs386833870 |
1000 genomes | rs386833870 |
hgdp | rs386833870 |
ensembl | rs386833870 |
geneview | rs386833870 |
scholar | rs386833870 |
rs386833870 | |
pharmgkb | rs386833870 |
gwascentral | rs386833870 |
openSNP | rs386833870 |
23andMe | rs386833870 |
SNPshot | rs386833870 |
SNPdbe | rs386833870 |
MSV3d | rs386833870 |
GWAS Ctlg | rs386833870 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833870(-;-) |
Alt | rs386833870(-;-) |
Reference | Rs386833870(CG;CG) |
Significance | Probable-Pathogenic |
Disease | Finnish congenital nephrotic syndrome |
Variation | info |
Gene | NPHS1 |
CLNDBN | Finnish congenital nephrotic syndrome |
Reversed | 1 |
HGVS | NC_000019.9:g.36339573_36339574delCG |
CLNSRC | ClinVar |
CLNACC | RCV000049841.1, |
[PMID 18614772] Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.