rs199506378
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199506378(G;T) |
Make rs199506378(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 179551435 |
Gene | AXDND1, NPHS2 |
is a | snp |
is | mentioned by |
dbSNP | rs199506378 |
dbSNP (classic) | rs199506378 |
ClinGen | rs199506378 |
ebi | rs199506378 |
HLI | rs199506378 |
Exac | rs199506378 |
Gnomad | rs199506378 |
Varsome | rs199506378 |
LitVar | rs199506378 |
Map | rs199506378 |
PheGenI | rs199506378 |
Biobank | rs199506378 |
1000 genomes | rs199506378 |
hgdp | rs199506378 |
ensembl | rs199506378 |
geneview | rs199506378 |
scholar | rs199506378 |
rs199506378 | |
pharmgkb | rs199506378 |
gwascentral | rs199506378 |
openSNP | rs199506378 |
23andMe | rs199506378 |
SNPshot | rs199506378 |
SNPdbe | rs199506378 |
MSV3d | rs199506378 |
GWAS Ctlg | rs199506378 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199506378(A;A) rs199506378(T;T) |
Alt | rs199506378(A;A) rs199506378(T;T) |
Reference | Rs199506378(G;G) |
Significance | Probable-Pathogenic |
Disease | Nephrotic syndrome |
Variation | info |
Gene | NPHS2 AXDND1 |
CLNDBN | Nephrotic syndrome, idiopathic, steroid-resistant |
Reversed | 0 |
HGVS | NC_000001.10:g.179520570G>A |
CLNSRC | |
CLNACC | RCV000409446.1, |