rs386833949
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs386833949(A;A) |
Make rs386833949(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 35850969 |
Gene | KIRREL2, NPHS1 |
is a | snp |
is | mentioned by |
dbSNP | rs386833949 |
dbSNP (classic) | rs386833949 |
ClinGen | rs386833949 |
ebi | rs386833949 |
HLI | rs386833949 |
Exac | rs386833949 |
Gnomad | rs386833949 |
Varsome | rs386833949 |
LitVar | rs386833949 |
Map | rs386833949 |
PheGenI | rs386833949 |
Biobank | rs386833949 |
1000 genomes | rs386833949 |
hgdp | rs386833949 |
ensembl | rs386833949 |
geneview | rs386833949 |
scholar | rs386833949 |
rs386833949 | |
pharmgkb | rs386833949 |
gwascentral | rs386833949 |
openSNP | rs386833949 |
23andMe | rs386833949 |
SNPshot | rs386833949 |
SNPdbe | rs386833949 |
MSV3d | rs386833949 |
GWAS Ctlg | rs386833949 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833949(A;A) |
Alt | rs386833949(A;A) |
Reference | Rs386833949(T;T) |
Significance | Probable-Pathogenic |
Disease | Finnish congenital nephrotic syndrome |
Variation | info |
Gene | NPHS1 KIRREL2 |
CLNDBN | Finnish congenital nephrotic syndrome |
Reversed | 1 |
HGVS | NC_000019.9:g.36341871A>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000049924.1, |
[PMID 9915943] Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.