rs139598219
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs139598219(C;T) |
Make rs139598219(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 35850407 |
Gene | KIRREL2, NPHS1 |
is a | snp |
is | mentioned by |
dbSNP | rs139598219 |
dbSNP (classic) | rs139598219 |
ClinGen | rs139598219 |
ebi | rs139598219 |
HLI | rs139598219 |
Exac | rs139598219 |
Gnomad | rs139598219 |
Varsome | rs139598219 |
LitVar | rs139598219 |
Map | rs139598219 |
PheGenI | rs139598219 |
Biobank | rs139598219 |
1000 genomes | rs139598219 |
hgdp | rs139598219 |
ensembl | rs139598219 |
geneview | rs139598219 |
scholar | rs139598219 |
rs139598219 | |
pharmgkb | rs139598219 |
gwascentral | rs139598219 |
openSNP | rs139598219 |
23andMe | rs139598219 |
SNPshot | rs139598219 |
SNPdbe | rs139598219 |
MSV3d | rs139598219 |
GWAS Ctlg | rs139598219 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs139598219(A;A) rs139598219(T;T) |
Alt | rs139598219(A;A) rs139598219(T;T) |
Reference | Rs139598219(C;C) |
Significance | Probable-Pathogenic |
Disease | Finnish congenital nephrotic syndrome |
Variation | info |
Gene | NPHS1 KIRREL2 |
CLNDBN | Finnish congenital nephrotic syndrome |
Reversed | 0 |
HGVS | NC_000019.9:g.36341309C>A |
CLNSRC | |
CLNACC | RCV000169154.1, |