rs139036657
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs139036657(A;A) |
Make rs139036657(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 35794018 |
Gene | NPR2 |
is a | snp |
is | mentioned by |
dbSNP | rs139036657 |
dbSNP (classic) | rs139036657 |
ClinGen | rs139036657 |
ebi | rs139036657 |
HLI | rs139036657 |
Exac | rs139036657 |
Gnomad | rs139036657 |
Varsome | rs139036657 |
LitVar | rs139036657 |
Map | rs139036657 |
PheGenI | rs139036657 |
Biobank | rs139036657 |
1000 genomes | rs139036657 |
hgdp | rs139036657 |
ensembl | rs139036657 |
geneview | rs139036657 |
scholar | rs139036657 |
rs139036657 | |
pharmgkb | rs139036657 |
gwascentral | rs139036657 |
openSNP | rs139036657 |
23andMe | rs139036657 |
SNPshot | rs139036657 |
SNPdbe | rs139036657 |
MSV3d | rs139036657 |
GWAS Ctlg | rs139036657 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs139036657(A;A) rs139036657(C;C) |
Alt | rs139036657(A;A) rs139036657(C;C) |
Reference | Rs139036657(G;G) |
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.35794015G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000190430.4, |