rs796065355
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs796065355(C;C) |
Make rs796065355(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 35792634 |
Gene | NPR2 |
is a | snp |
is | mentioned by |
dbSNP | rs796065355 |
dbSNP (classic) | rs796065355 |
ClinGen | rs796065355 |
ebi | rs796065355 |
HLI | rs796065355 |
Exac | rs796065355 |
Gnomad | rs796065355 |
Varsome | rs796065355 |
LitVar | rs796065355 |
Map | rs796065355 |
PheGenI | rs796065355 |
Biobank | rs796065355 |
1000 genomes | rs796065355 |
hgdp | rs796065355 |
ensembl | rs796065355 |
geneview | rs796065355 |
scholar | rs796065355 |
rs796065355 | |
pharmgkb | rs796065355 |
gwascentral | rs796065355 |
openSNP | rs796065355 |
23andMe | rs796065355 |
SNPshot | rs796065355 |
SNPdbe | rs796065355 |
MSV3d | rs796065355 |
GWAS Ctlg | rs796065355 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796065355(C;C) |
Alt | rs796065355(C;C) |
Reference | Rs796065355(T;T) |
Significance | Pathogenic |
Disease | Short stature with nonspecific skeletal abnormalities |
Variation | info |
Gene | NPR2 |
CLNDBN | Short stature with nonspecific skeletal abnormalities |
Reversed | 0 |
HGVS | NC_000009.11:g.35792631T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000190429.2, |