rs778921118
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs778921118(C;C) |
| Make rs778921118(C;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | X |
| Position | 640862 |
| Gene | SHOX |
| is a | snp |
| is | mentioned by |
| dbSNP | rs778921118 |
| dbSNP (classic) | rs778921118 |
| ClinGen | rs778921118 |
| ebi | rs778921118 |
| HLI | rs778921118 |
| Exac | rs778921118 |
| Gnomad | rs778921118 |
| Varsome | rs778921118 |
| LitVar | rs778921118 |
| Map | rs778921118 |
| PheGenI | rs778921118 |
| Biobank | rs778921118 |
| 1000 genomes | rs778921118 |
| hgdp | rs778921118 |
| ensembl | rs778921118 |
| geneview | rs778921118 |
| scholar | rs778921118 |
| rs778921118 | |
| pharmgkb | rs778921118 |
| gwascentral | rs778921118 |
| openSNP | rs778921118 |
| 23andMe | rs778921118 |
| SNPshot | rs778921118 |
| SNPdbe | rs778921118 |
| MSV3d | rs778921118 |
| GWAS Ctlg | rs778921118 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs778921118(C;C) rs778921118(T;T) |
| Alt | rs778921118(C;C) rs778921118(T;T) |
| Reference | Rs778921118(G;G) |
| Significance | Pathogenic |
| Disease | Short stature |
| Variation | info |
| Gene | SHOX |
| CLNDBN | Short stature, idiopathic, X-linked |
| Reversed | 0 |
| HGVS | NC_000023.10:g.601597G\x3d; NC_000023.10:g.601597G>C |
| CLNSRC | |
| CLNACC | RCV000256218.1, RCV000256224.1, |
