rs386833922
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TCA;TCA) | 0 | common in clinvar |
Make rs386833922(CC;CC) |
Make rs386833922(CC;TCA) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 35842167 |
Gene | NPHS1 |
is a | snp |
is | mentioned by |
dbSNP | rs386833922 |
dbSNP (classic) | rs386833922 |
ClinGen | rs386833922 |
ebi | rs386833922 |
HLI | rs386833922 |
Exac | rs386833922 |
Gnomad | rs386833922 |
Varsome | rs386833922 |
LitVar | rs386833922 |
Map | rs386833922 |
PheGenI | rs386833922 |
Biobank | rs386833922 |
1000 genomes | rs386833922 |
hgdp | rs386833922 |
ensembl | rs386833922 |
geneview | rs386833922 |
scholar | rs386833922 |
rs386833922 | |
pharmgkb | rs386833922 |
gwascentral | rs386833922 |
openSNP | rs386833922 |
23andMe | rs386833922 |
SNPshot | rs386833922 |
SNPdbe | rs386833922 |
MSV3d | rs386833922 |
GWAS Ctlg | rs386833922 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833922(CC;CC) |
Alt | rs386833922(CC;CC) |
Reference | Rs386833922(TCA;TCA) |
Significance | Probable-Pathogenic |
Disease | Finnish congenital nephrotic syndrome |
Variation | info |
Gene | NPHS1 |
CLNDBN | Finnish congenital nephrotic syndrome |
Reversed | 1 |
HGVS | NC_000019.9:g.36333069_36333071delTGAinsGG |
CLNSRC | ClinVar |
CLNACC | RCV000049896.1, |
[PMID 11317351] Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.