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, |
