rs12406197
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs12406197(A;A) |
Make rs12406197(A;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 179575915 |
Gene | NPHS2 |
is a | snp |
is | mentioned by |
dbSNP | rs12406197 |
dbSNP (classic) | rs12406197 |
ClinGen | rs12406197 |
ebi | rs12406197 |
HLI | rs12406197 |
Exac | rs12406197 |
Gnomad | rs12406197 |
Varsome | rs12406197 |
LitVar | rs12406197 |
Map | rs12406197 |
PheGenI | rs12406197 |
Biobank | rs12406197 |
1000 genomes | rs12406197 |
hgdp | rs12406197 |
ensembl | rs12406197 |
geneview | rs12406197 |
scholar | rs12406197 |
rs12406197 | |
pharmgkb | rs12406197 |
gwascentral | rs12406197 |
openSNP | rs12406197 |
23andMe | rs12406197 |
SNPshot | rs12406197 |
SNPdbe | rs12406197 |
MSV3d | rs12406197 |
GWAS Ctlg | rs12406197 |
Max Magnitude | 0 |
ClinVar: Likely benign
ClinVar | |
---|---|
Risk | rs12406197(A;A) |
Alt | rs12406197(A;A) |
Reference | Rs12406197(C;C) |
Significance | Non-pathogenic |
Disease | Nephrotic syndrome Steroid-resistant nephrotic syndrome |
Variation | info |
Gene | NPHS2 |
CLNDBN | Nephrotic syndrome, idiopathic, steroid-resistant Steroid-resistant nephrotic syndrome |
Reversed | 0 |
HGVS | NC_000001.10:g.179545050C>A |
CLNSRC | |
CLNACC | RCV000210779.1, RCV000210804.1, RCV000358624.1, |