rs515726162
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs515726162(G;T) |
| Make rs515726162(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 12 |
| Position | 109792403 |
| Gene | TRPV4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs515726162 |
| dbSNP (classic) | rs515726162 |
| ClinGen | rs515726162 |
| ebi | rs515726162 |
| HLI | rs515726162 |
| Exac | rs515726162 |
| Gnomad | rs515726162 |
| Varsome | rs515726162 |
| LitVar | rs515726162 |
| Map | rs515726162 |
| PheGenI | rs515726162 |
| Biobank | rs515726162 |
| 1000 genomes | rs515726162 |
| hgdp | rs515726162 |
| ensembl | rs515726162 |
| geneview | rs515726162 |
| scholar | rs515726162 |
| rs515726162 | |
| pharmgkb | rs515726162 |
| gwascentral | rs515726162 |
| openSNP | rs515726162 |
| 23andMe | rs515726162 |
| SNPshot | rs515726162 |
| SNPdbe | rs515726162 |
| MSV3d | rs515726162 |
| GWAS Ctlg | rs515726162 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs515726162(T;T) |
| Alt | rs515726162(T;T) |
| Reference | Rs515726162(G;G) |
| Significance | Pathogenic |
| Disease | Skeletal dysplasia |
| Variation | info |
| Gene | TRPV4 |
| CLNDBN | Skeletal dysplasia |
| Reversed | 0 |
| HGVS | NC_000012.11:g.110230208G>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000202452.1, |
