rs758478717
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs758478717(C;T) |
Make rs758478717(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 35792736 |
Gene | NPR2 |
is a | snp |
is | mentioned by |
dbSNP | rs758478717 |
dbSNP (classic) | rs758478717 |
ClinGen | rs758478717 |
ebi | rs758478717 |
HLI | rs758478717 |
Exac | rs758478717 |
Gnomad | rs758478717 |
Varsome | rs758478717 |
LitVar | rs758478717 |
Map | rs758478717 |
PheGenI | rs758478717 |
Biobank | rs758478717 |
1000 genomes | rs758478717 |
hgdp | rs758478717 |
ensembl | rs758478717 |
geneview | rs758478717 |
scholar | rs758478717 |
rs758478717 | |
pharmgkb | rs758478717 |
gwascentral | rs758478717 |
openSNP | rs758478717 |
23andMe | rs758478717 |
SNPshot | rs758478717 |
SNPdbe | rs758478717 |
MSV3d | rs758478717 |
GWAS Ctlg | rs758478717 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs758478717(T;T) |
Alt | rs758478717(T;T) |
Reference | Rs758478717(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.35792733C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000190431.3, |