rs12568913
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs12568913(A;A) |
Make rs12568913(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 179557179 |
Gene | NPHS2 |
is a | snp |
is | mentioned by |
dbSNP | rs12568913 |
dbSNP (classic) | rs12568913 |
ClinGen | rs12568913 |
ebi | rs12568913 |
HLI | rs12568913 |
Exac | rs12568913 |
Gnomad | rs12568913 |
Varsome | rs12568913 |
LitVar | rs12568913 |
Map | rs12568913 |
PheGenI | rs12568913 |
Biobank | rs12568913 |
1000 genomes | rs12568913 |
hgdp | rs12568913 |
ensembl | rs12568913 |
geneview | rs12568913 |
scholar | rs12568913 |
rs12568913 | |
pharmgkb | rs12568913 |
gwascentral | rs12568913 |
openSNP | rs12568913 |
23andMe | rs12568913 |
SNPshot | rs12568913 |
SNPdbe | rs12568913 |
MSV3d | rs12568913 |
GWAS Ctlg | rs12568913 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs12568913(A;A) rs12568913(C;C) |
Alt | rs12568913(A;A) rs12568913(C;C) |
Reference | Rs12568913(G;G) |
Significance | Probable-Pathogenic |
Disease | Nephrotic syndrome |
Variation | info |
Gene | NPHS2 |
CLNDBN | Nephrotic syndrome, idiopathic, steroid-resistant |
Reversed | 0 |
HGVS | NC_000001.10:g.179526314G>A |
CLNSRC | Counsyl |
CLNACC | RCV000169250.1, |