rs769399002
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs769399002(-;-) |
Make rs769399002(-;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 49122063 |
Gene | LAMB2, USP19 |
is a | snp |
is | mentioned by |
dbSNP | rs769399002 |
dbSNP (classic) | rs769399002 |
ClinGen | rs769399002 |
ebi | rs769399002 |
HLI | rs769399002 |
Exac | rs769399002 |
Gnomad | rs769399002 |
Varsome | rs769399002 |
LitVar | rs769399002 |
Map | rs769399002 |
PheGenI | rs769399002 |
Biobank | rs769399002 |
1000 genomes | rs769399002 |
hgdp | rs769399002 |
ensembl | rs769399002 |
geneview | rs769399002 |
scholar | rs769399002 |
rs769399002 | |
pharmgkb | rs769399002 |
gwascentral | rs769399002 |
openSNP | rs769399002 |
23andMe | rs769399002 |
SNPshot | rs769399002 |
SNPdbe | rs769399002 |
MSV3d | rs769399002 |
GWAS Ctlg | rs769399002 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs769399002(-;-) |
Alt | rs769399002(-;-) |
Reference | Rs769399002(G;G) |
Significance | Pathogenic |
Disease | Nephrotic syndrome |
Variation | info |
Gene | LAMB2 USP19 |
CLNDBN | Nephrotic syndrome, type 5, with or without ocular abnormalities |
Reversed | 0 |
HGVS | NC_000003.11:g.49159496delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015637.27, |