rs386833879
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs386833879(A;A) |
Make rs386833879(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 35848144 |
Gene | NPHS1 |
is a | snp |
is | mentioned by |
dbSNP | rs386833879 |
dbSNP (classic) | rs386833879 |
ClinGen | rs386833879 |
ebi | rs386833879 |
HLI | rs386833879 |
Exac | rs386833879 |
Gnomad | rs386833879 |
Varsome | rs386833879 |
LitVar | rs386833879 |
Map | rs386833879 |
PheGenI | rs386833879 |
Biobank | rs386833879 |
1000 genomes | rs386833879 |
hgdp | rs386833879 |
ensembl | rs386833879 |
geneview | rs386833879 |
scholar | rs386833879 |
rs386833879 | |
pharmgkb | rs386833879 |
gwascentral | rs386833879 |
openSNP | rs386833879 |
23andMe | rs386833879 |
SNPshot | rs386833879 |
SNPdbe | rs386833879 |
MSV3d | rs386833879 |
GWAS Ctlg | rs386833879 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833879(A;A) |
Alt | rs386833879(A;A) |
Reference | Rs386833879(T;T) |
Significance | Probable-Pathogenic |
Disease | Finnish congenital nephrotic syndrome |
Variation | info |
Gene | NPHS1 |
CLNDBN | Finnish congenital nephrotic syndrome |
Reversed | 1 |
HGVS | NC_000019.9:g.36339046A>T |
CLNSRC | ClinVar |
CLNACC | RCV000049850.1, |
[PMID 11854170] Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.