rs869312747
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs869312747(C;T) |
Make rs869312747(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 179552664 |
Gene | AXDND1, NPHS2 |
is a | snp |
is | mentioned by |
dbSNP | rs869312747 |
dbSNP (classic) | rs869312747 |
ClinGen | rs869312747 |
ebi | rs869312747 |
HLI | rs869312747 |
Exac | rs869312747 |
Gnomad | rs869312747 |
Varsome | rs869312747 |
LitVar | rs869312747 |
Map | rs869312747 |
PheGenI | rs869312747 |
Biobank | rs869312747 |
1000 genomes | rs869312747 |
hgdp | rs869312747 |
ensembl | rs869312747 |
geneview | rs869312747 |
scholar | rs869312747 |
rs869312747 | |
pharmgkb | rs869312747 |
gwascentral | rs869312747 |
openSNP | rs869312747 |
23andMe | rs869312747 |
SNPshot | rs869312747 |
SNPdbe | rs869312747 |
MSV3d | rs869312747 |
GWAS Ctlg | rs869312747 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312747(T;T) |
Alt | rs869312747(T;T) |
Reference | Rs869312747(C;C) |
Significance | Pathogenic |
Disease | Nephrotic syndrome |
Variation | info |
Gene | NPHS2 AXDND1 |
CLNDBN | Nephrotic syndrome, idiopathic, steroid-resistant |
Reversed | 1 |
HGVS | NC_000001.10:g.179521799G>A |
CLNSRC | |
CLNACC | RCV000210051.1, |