rs138656762
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs138656762(A;A) |
Make rs138656762(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 35839418 |
Gene | NPHS1 |
is a | snp |
is | mentioned by |
dbSNP | rs138656762 |
dbSNP (classic) | rs138656762 |
ClinGen | rs138656762 |
ebi | rs138656762 |
HLI | rs138656762 |
Exac | rs138656762 |
Gnomad | rs138656762 |
Varsome | rs138656762 |
LitVar | rs138656762 |
Map | rs138656762 |
PheGenI | rs138656762 |
Biobank | rs138656762 |
1000 genomes | rs138656762 |
hgdp | rs138656762 |
ensembl | rs138656762 |
geneview | rs138656762 |
scholar | rs138656762 |
rs138656762 | |
pharmgkb | rs138656762 |
gwascentral | rs138656762 |
openSNP | rs138656762 |
23andMe | rs138656762 |
SNPshot | rs138656762 |
SNPdbe | rs138656762 |
MSV3d | rs138656762 |
GWAS Ctlg | rs138656762 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138656762(A;A) |
Alt | rs138656762(A;A) |
Reference | Rs138656762(C;C) |
Significance | Probable-Pathogenic |
Disease | Finnish congenital nephrotic syndrome |
Variation | info |
Gene | NPHS1 |
CLNDBN | Finnish congenital nephrotic syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.36330320C>A |
CLNSRC | |
CLNACC | RCV000169078.1, |