rs78541594
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs78541594(C;C) |
Make rs78541594(C;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 179575916 |
Gene | NPHS2 |
is a | snp |
is | mentioned by |
dbSNP | rs78541594 |
dbSNP (classic) | rs78541594 |
ClinGen | rs78541594 |
ebi | rs78541594 |
HLI | rs78541594 |
Exac | rs78541594 |
Gnomad | rs78541594 |
Varsome | rs78541594 |
LitVar | rs78541594 |
Map | rs78541594 |
PheGenI | rs78541594 |
Biobank | rs78541594 |
1000 genomes | rs78541594 |
hgdp | rs78541594 |
ensembl | rs78541594 |
geneview | rs78541594 |
scholar | rs78541594 |
rs78541594 | |
pharmgkb | rs78541594 |
gwascentral | rs78541594 |
openSNP | rs78541594 |
23andMe | rs78541594 |
SNPshot | rs78541594 |
SNPdbe | rs78541594 |
MSV3d | rs78541594 |
GWAS Ctlg | rs78541594 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs78541594(C;C) |
Alt | rs78541594(C;C) |
Reference | Rs78541594(G;G) |
Significance | 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.179545051G>C |
CLNSRC | |
CLNACC | RCV000210779.1, RCV000273220.1, |