rs267606919
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs267606919(C;T) |
Make rs267606919(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 35831056 |
Gene | NPHS1 |
is a | snp |
is | mentioned by |
dbSNP | rs267606919 |
dbSNP (classic) | rs267606919 |
ClinGen | rs267606919 |
ebi | rs267606919 |
HLI | rs267606919 |
Exac | rs267606919 |
Gnomad | rs267606919 |
Varsome | rs267606919 |
LitVar | rs267606919 |
Map | rs267606919 |
PheGenI | rs267606919 |
Biobank | rs267606919 |
1000 genomes | rs267606919 |
hgdp | rs267606919 |
ensembl | rs267606919 |
geneview | rs267606919 |
scholar | rs267606919 |
rs267606919 | |
pharmgkb | rs267606919 |
gwascentral | rs267606919 |
openSNP | rs267606919 |
23andMe | rs267606919 |
SNPshot | rs267606919 |
SNPdbe | rs267606919 |
MSV3d | rs267606919 |
GWAS Ctlg | rs267606919 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606919(T;T) |
Alt | rs267606919(T;T) |
Reference | Rs267606919(C;C) |
Significance | Pathogenic |
Disease | Finnish congenital nephrotic syndrome |
Variation | info |
Gene | NPHS1 |
CLNDBN | Finnish congenital nephrotic syndrome |
Reversed | 1 |
HGVS | NC_000019.9:g.36321958G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007276.2, |