rs786204729
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786204729(A;A) |
Make rs786204729(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 19 |
Position | 35831372 |
Gene | NPHS1 |
is a | snp |
is | mentioned by |
dbSNP | rs786204729 |
dbSNP (classic) | rs786204729 |
ClinGen | rs786204729 |
ebi | rs786204729 |
HLI | rs786204729 |
Exac | rs786204729 |
Gnomad | rs786204729 |
Varsome | rs786204729 |
LitVar | rs786204729 |
Map | rs786204729 |
PheGenI | rs786204729 |
Biobank | rs786204729 |
1000 genomes | rs786204729 |
hgdp | rs786204729 |
ensembl | rs786204729 |
geneview | rs786204729 |
scholar | rs786204729 |
rs786204729 | |
pharmgkb | rs786204729 |
gwascentral | rs786204729 |
openSNP | rs786204729 |
23andMe | rs786204729 |
SNPshot | rs786204729 |
SNPdbe | rs786204729 |
MSV3d | rs786204729 |
GWAS Ctlg | rs786204729 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204729(A;A) |
Alt | rs786204729(A;A) |
Reference | Rs786204729(G;G) |
Significance | Probable-Pathogenic |
Disease | Finnish congenital nephrotic syndrome |
Variation | info |
Gene | NPHS1 |
CLNDBN | Finnish congenital nephrotic syndrome |
Reversed | 1 |
HGVS | NC_000019.9:g.36322274C>T |
CLNSRC | |
CLNACC | RCV000169569.1, |