rs111549748
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs111549748(C;C) |
| Make rs111549748(C;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | X |
| Position | 624528 |
| Gene | SHOX |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111549748 |
| dbSNP (classic) | rs111549748 |
| ClinGen | rs111549748 |
| ebi | rs111549748 |
| HLI | rs111549748 |
| Exac | rs111549748 |
| Gnomad | rs111549748 |
| Varsome | rs111549748 |
| LitVar | rs111549748 |
| Map | rs111549748 |
| PheGenI | rs111549748 |
| Biobank | rs111549748 |
| 1000 genomes | rs111549748 |
| hgdp | rs111549748 |
| ensembl | rs111549748 |
| geneview | rs111549748 |
| scholar | rs111549748 |
| rs111549748 | |
| pharmgkb | rs111549748 |
| gwascentral | rs111549748 |
| openSNP | rs111549748 |
| 23andMe | rs111549748 |
| SNPshot | rs111549748 |
| SNPdbe | rs111549748 |
| MSV3d | rs111549748 |
| GWAS Ctlg | rs111549748 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs111549748(C;C) |
| Alt | rs111549748(C;C) |
| Reference | Rs111549748(G;G) |
| Significance | Pathogenic |
| Disease | Short stature |
| Variation | info |
| Gene | SHOX |
| CLNDBN | Short stature, idiopathic, X-linked |
| Reversed | 0 |
| HGVS | NC_000023.10:g.585263G>C |
| CLNSRC | |
| CLNACC | RCV000190323.1, |
