rs1057516395
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1057516395(-;-) |
Make rs1057516395(-;C) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 179564699 |
Gene | NPHS2 |
is a | snp |
is | mentioned by |
dbSNP | rs1057516395 |
dbSNP (classic) | rs1057516395 |
ClinGen | rs1057516395 |
ebi | rs1057516395 |
HLI | rs1057516395 |
Exac | rs1057516395 |
Gnomad | rs1057516395 |
Varsome | rs1057516395 |
LitVar | rs1057516395 |
Map | rs1057516395 |
PheGenI | rs1057516395 |
Biobank | rs1057516395 |
1000 genomes | rs1057516395 |
hgdp | rs1057516395 |
ensembl | rs1057516395 |
geneview | rs1057516395 |
scholar | rs1057516395 |
rs1057516395 | |
pharmgkb | rs1057516395 |
gwascentral | rs1057516395 |
openSNP | rs1057516395 |
23andMe | rs1057516395 |
SNPshot | rs1057516395 |
SNPdbe | rs1057516395 |
MSV3d | rs1057516395 |
GWAS Ctlg | rs1057516395 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057516395(-;-) |
Alt | rs1057516395(-;-) |
Reference | Rs1057516395(C;C) |
Significance | Probable-Pathogenic |
Disease | Nephrotic syndrome |
Variation | info |
Gene | NPHS2 |
CLNDBN | Nephrotic syndrome, idiopathic, steroid-resistant |
Reversed | 1 |
HGVS | NC_000001.10:g.179533834delG |
CLNSRC | |
CLNACC | RCV000412170.1, |