rs530318579
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs530318579(C;T) |
Make rs530318579(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 179559710 |
Gene | NPHS2 |
is a | snp |
is | mentioned by |
dbSNP | rs530318579 |
dbSNP (classic) | rs530318579 |
ClinGen | rs530318579 |
ebi | rs530318579 |
HLI | rs530318579 |
Exac | rs530318579 |
Gnomad | rs530318579 |
Varsome | rs530318579 |
LitVar | rs530318579 |
Map | rs530318579 |
PheGenI | rs530318579 |
Biobank | rs530318579 |
1000 genomes | rs530318579 |
hgdp | rs530318579 |
ensembl | rs530318579 |
geneview | rs530318579 |
scholar | rs530318579 |
rs530318579 | |
pharmgkb | rs530318579 |
gwascentral | rs530318579 |
openSNP | rs530318579 |
23andMe | rs530318579 |
SNPshot | rs530318579 |
SNPdbe | rs530318579 |
MSV3d | rs530318579 |
GWAS Ctlg | rs530318579 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs530318579(T;T) |
Alt | rs530318579(T;T) |
Reference | Rs530318579(C;C) |
Significance | Probable-Pathogenic |
Disease | Nephrotic syndrome |
Variation | info |
Gene | NPHS2 |
CLNDBN | Nephrotic syndrome, idiopathic, steroid-resistant |
Reversed | 0 |
HGVS | NC_000001.10:g.179528845C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000169033.1, |