rs766256429
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs766256429(C;G) |
Make rs766256429(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 35806474 |
Gene | NPR2 |
is a | snp |
is | mentioned by |
dbSNP | rs766256429 |
dbSNP (classic) | rs766256429 |
ClinGen | rs766256429 |
ebi | rs766256429 |
HLI | rs766256429 |
Exac | rs766256429 |
Gnomad | rs766256429 |
Varsome | rs766256429 |
LitVar | rs766256429 |
Map | rs766256429 |
PheGenI | rs766256429 |
Biobank | rs766256429 |
1000 genomes | rs766256429 |
hgdp | rs766256429 |
ensembl | rs766256429 |
geneview | rs766256429 |
scholar | rs766256429 |
rs766256429 | |
pharmgkb | rs766256429 |
gwascentral | rs766256429 |
openSNP | rs766256429 |
23andMe | rs766256429 |
SNPshot | rs766256429 |
SNPdbe | rs766256429 |
MSV3d | rs766256429 |
GWAS Ctlg | rs766256429 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs766256429(G;G) rs766256429(T;T) |
Alt | rs766256429(G;G) rs766256429(T;T) |
Reference | Rs766256429(C;C) |
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.35806471C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000190428.3, |