rs869320695
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs869320695(-;-) |
Make rs869320695(-;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 56832369 |
Gene | NUP93 |
is a | snp |
is | mentioned by |
dbSNP | rs869320695 |
dbSNP (classic) | rs869320695 |
ClinGen | rs869320695 |
ebi | rs869320695 |
HLI | rs869320695 |
Exac | rs869320695 |
Gnomad | rs869320695 |
Varsome | rs869320695 |
LitVar | rs869320695 |
Map | rs869320695 |
PheGenI | rs869320695 |
Biobank | rs869320695 |
1000 genomes | rs869320695 |
hgdp | rs869320695 |
ensembl | rs869320695 |
geneview | rs869320695 |
scholar | rs869320695 |
rs869320695 | |
pharmgkb | rs869320695 |
gwascentral | rs869320695 |
openSNP | rs869320695 |
23andMe | rs869320695 |
SNPshot | rs869320695 |
SNPdbe | rs869320695 |
MSV3d | rs869320695 |
GWAS Ctlg | rs869320695 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869320695(-;-) |
Alt | rs869320695(-;-) |
Reference | Rs869320695(G;G) |
Significance | Pathogenic |
Disease | Nephrotic syndrome |
Variation | info |
Gene | NUP93 |
CLNDBN | Nephrotic syndrome, type 12 |
Reversed | 0 |
HGVS | NC_000016.9:g.56866281delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210703.1, |