rs879255257
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs879255257(-;-) |
| Make rs879255257(-;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 9 |
| Position | 35800126 |
| Gene | NPR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs879255257 |
| dbSNP (classic) | rs879255257 |
| ClinGen | rs879255257 |
| ebi | rs879255257 |
| HLI | rs879255257 |
| Exac | rs879255257 |
| Gnomad | rs879255257 |
| Varsome | rs879255257 |
| LitVar | rs879255257 |
| Map | rs879255257 |
| PheGenI | rs879255257 |
| Biobank | rs879255257 |
| 1000 genomes | rs879255257 |
| hgdp | rs879255257 |
| ensembl | rs879255257 |
| geneview | rs879255257 |
| scholar | rs879255257 |
| rs879255257 | |
| pharmgkb | rs879255257 |
| gwascentral | rs879255257 |
| openSNP | rs879255257 |
| 23andMe | rs879255257 |
| SNPshot | rs879255257 |
| SNPdbe | rs879255257 |
| MSV3d | rs879255257 |
| GWAS Ctlg | rs879255257 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs879255257(-;-) |
| Alt | rs879255257(-;-) |
| Reference | Rs879255257(T;T) |
| Significance | Pathogenic |
| Disease | Acromesomelic dysplasia Maroteaux type Short stature with nonspecific skeletal abnormalities |
| Variation | info |
| Gene | NPR2 |
| CLNDBN | Acromesomelic dysplasia Maroteaux type Short stature with nonspecific skeletal abnormalities |
| Reversed | 0 |
| HGVS | NC_000009.11:g.35800123delT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000190426.3, RCV000190427.3, |
