rs145473779
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs145473779(G;T) |
Make rs145473779(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 56834768 |
Gene | NUP93 |
is a | snp |
is | mentioned by |
dbSNP | rs145473779 |
dbSNP (classic) | rs145473779 |
ClinGen | rs145473779 |
ebi | rs145473779 |
HLI | rs145473779 |
Exac | rs145473779 |
Gnomad | rs145473779 |
Varsome | rs145473779 |
LitVar | rs145473779 |
Map | rs145473779 |
PheGenI | rs145473779 |
Biobank | rs145473779 |
1000 genomes | rs145473779 |
hgdp | rs145473779 |
ensembl | rs145473779 |
geneview | rs145473779 |
scholar | rs145473779 |
rs145473779 | |
pharmgkb | rs145473779 |
gwascentral | rs145473779 |
openSNP | rs145473779 |
23andMe | rs145473779 |
SNPshot | rs145473779 |
SNPdbe | rs145473779 |
MSV3d | rs145473779 |
GWAS Ctlg | rs145473779 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs145473779(T;T) |
Alt | rs145473779(T;T) |
Reference | Rs145473779(G;G) |
Significance | Pathogenic |
Disease | Nephrotic syndrome |
Variation | info |
Gene | NUP93 |
CLNDBN | Nephrotic syndrome, type 12 |
Reversed | 0 |
HGVS | NC_000016.9:g.56868680G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210563.1, |