rs138909849
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs138909849(A;A) |
Make rs138909849(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 16 |
Position | 56833407 |
Gene | NUP93 |
is a | snp |
is | mentioned by |
dbSNP | rs138909849 |
dbSNP (classic) | rs138909849 |
ClinGen | rs138909849 |
ebi | rs138909849 |
HLI | rs138909849 |
Exac | rs138909849 |
Gnomad | rs138909849 |
Varsome | rs138909849 |
LitVar | rs138909849 |
Map | rs138909849 |
PheGenI | rs138909849 |
Biobank | rs138909849 |
1000 genomes | rs138909849 |
hgdp | rs138909849 |
ensembl | rs138909849 |
geneview | rs138909849 |
scholar | rs138909849 |
rs138909849 | |
pharmgkb | rs138909849 |
gwascentral | rs138909849 |
openSNP | rs138909849 |
23andMe | rs138909849 |
SNPshot | rs138909849 |
SNPdbe | rs138909849 |
MSV3d | rs138909849 |
GWAS Ctlg | rs138909849 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs138909849(A;A) |
Alt | rs138909849(A;A) |
Reference | Rs138909849(G;G) |
Significance | Pathogenic |
Disease | Nephrotic syndrome |
Variation | info |
Gene | NUP93 |
CLNDBN | Nephrotic syndrome, type 12 |
Reversed | 0 |
HGVS | NC_000016.9:g.56867319G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000210572.1, |