rs74315348
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs74315348(C;T) |
Make rs74315348(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 179552605 |
Gene | AXDND1, NPHS2 |
is a | snp |
is | mentioned by |
dbSNP | rs74315348 |
dbSNP (classic) | rs74315348 |
ClinGen | rs74315348 |
ebi | rs74315348 |
HLI | rs74315348 |
Exac | rs74315348 |
Gnomad | rs74315348 |
Varsome | rs74315348 |
LitVar | rs74315348 |
Map | rs74315348 |
PheGenI | rs74315348 |
Biobank | rs74315348 |
1000 genomes | rs74315348 |
hgdp | rs74315348 |
ensembl | rs74315348 |
geneview | rs74315348 |
scholar | rs74315348 |
rs74315348 | |
pharmgkb | rs74315348 |
gwascentral | rs74315348 |
openSNP | rs74315348 |
23andMe | rs74315348 |
SNPshot | rs74315348 |
SNPdbe | rs74315348 |
MSV3d | rs74315348 |
GWAS Ctlg | rs74315348 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74315348(T;T) |
Alt | rs74315348(T;T) |
Reference | Rs74315348(C;C) |
Significance | Other |
Disease | Nephrotic syndrome |
Variation | info |
Gene | NPHS2 AXDND1 |
CLNDBN | Nephrotic syndrome, idiopathic, steroid-resistant |
Reversed | 1 |
HGVS | NC_000001.10:g.179521740G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005700.4, |