rs114896482
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs114896482(A;A) |
Make rs114896482(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 35842487 |
Gene | NPHS1 |
is a | snp |
is | mentioned by |
dbSNP | rs114896482 |
dbSNP (classic) | rs114896482 |
ClinGen | rs114896482 |
ebi | rs114896482 |
HLI | rs114896482 |
Exac | rs114896482 |
Gnomad | rs114896482 |
Varsome | rs114896482 |
LitVar | rs114896482 |
Map | rs114896482 |
PheGenI | rs114896482 |
Biobank | rs114896482 |
1000 genomes | rs114896482 |
hgdp | rs114896482 |
ensembl | rs114896482 |
geneview | rs114896482 |
scholar | rs114896482 |
rs114896482 | |
pharmgkb | rs114896482 |
gwascentral | rs114896482 |
openSNP | rs114896482 |
23andMe | rs114896482 |
SNPshot | rs114896482 |
SNPdbe | rs114896482 |
MSV3d | rs114896482 |
GWAS Ctlg | rs114896482 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs114896482(A;A) |
Alt | rs114896482(A;A) |
Reference | Rs114896482(G;G) |
Significance | Probable-Pathogenic |
Disease | Hereditary nephrotic syndrome |
Variation | info |
Gene | NPHS1 |
CLNDBN | Hereditary nephrotic syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.36333389G>A |
CLNSRC | |
CLNACC | RCV000208010.1, |