rs267606918
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs267606918(A;A) |
Make rs267606918(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 35842421 |
Gene | NPHS1 |
is a | snp |
is | mentioned by |
dbSNP | rs267606918 |
dbSNP (classic) | rs267606918 |
ClinGen | rs267606918 |
ebi | rs267606918 |
HLI | rs267606918 |
Exac | rs267606918 |
Gnomad | rs267606918 |
Varsome | rs267606918 |
LitVar | rs267606918 |
Map | rs267606918 |
PheGenI | rs267606918 |
Biobank | rs267606918 |
1000 genomes | rs267606918 |
hgdp | rs267606918 |
ensembl | rs267606918 |
geneview | rs267606918 |
scholar | rs267606918 |
rs267606918 | |
pharmgkb | rs267606918 |
gwascentral | rs267606918 |
openSNP | rs267606918 |
23andMe | rs267606918 |
SNPshot | rs267606918 |
SNPdbe | rs267606918 |
MSV3d | rs267606918 |
GWAS Ctlg | rs267606918 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606918(A;A) |
Alt | rs267606918(A;A) |
Reference | Rs267606918(G;G) |
Significance | Pathogenic |
Disease | Finnish congenital nephrotic syndrome |
Variation | info |
Gene | NPHS1 |
CLNDBN | Finnish congenital nephrotic syndrome |
Reversed | 1 |
HGVS | NC_000019.9:g.36333323C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007278.2, |