rs137853042
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a congenital nephrotic syndrome mutation |
Make rs137853042(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 35831358 |
Gene | NPHS1 |
is a | snp |
is | mentioned by |
dbSNP | rs137853042 |
dbSNP (classic) | rs137853042 |
ClinGen | rs137853042 |
ebi | rs137853042 |
HLI | rs137853042 |
Exac | rs137853042 |
Gnomad | rs137853042 |
Varsome | rs137853042 |
LitVar | rs137853042 |
Map | rs137853042 |
PheGenI | rs137853042 |
Biobank | rs137853042 |
1000 genomes | rs137853042 |
hgdp | rs137853042 |
ensembl | rs137853042 |
geneview | rs137853042 |
scholar | rs137853042 |
rs137853042 | |
pharmgkb | rs137853042 |
gwascentral | rs137853042 |
openSNP | rs137853042 |
23andMe | rs137853042 |
SNPshot | rs137853042 |
SNPdbe | rs137853042 |
MSV3d | rs137853042 |
GWAS Ctlg | rs137853042 |
Max Magnitude | 3 |
aka c.3325C>T (p.Arg1109Ter or R1109X)
ClinVar | |
---|---|
Risk | rs137853042(T;T) |
Alt | rs137853042(T;T) |
Reference | Rs137853042(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.36322260G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007270.2, |