rs199946685
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (D;D) | 0 | common genotype |
| (T;T) | 0 | common in clinvar |
| Make rs199946685(-;TGT) |
| Make rs199946685(TGT;TGT) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | X |
| Position | 624389 |
| Gene | SHOX |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199946685 |
| dbSNP (classic) | rs199946685 |
| ClinGen | rs199946685 |
| ebi | rs199946685 |
| HLI | rs199946685 |
| Exac | rs199946685 |
| Gnomad | rs199946685 |
| Varsome | rs199946685 |
| LitVar | rs199946685 |
| Map | rs199946685 |
| PheGenI | rs199946685 |
| Biobank | rs199946685 |
| 1000 genomes | rs199946685 |
| hgdp | rs199946685 |
| ensembl | rs199946685 |
| geneview | rs199946685 |
| scholar | rs199946685 |
| rs199946685 | |
| pharmgkb | rs199946685 |
| gwascentral | rs199946685 |
| openSNP | rs199946685 |
| 23andMe | rs199946685 |
| SNPshot | rs199946685 |
| SNPdbe | rs199946685 |
| MSV3d | rs199946685 |
| GWAS Ctlg | rs199946685 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199946685(G;G) rs199946685(TGT;TGT) |
| Alt | rs199946685(G;G) rs199946685(TGT;TGT) |
| Reference | Rs199946685(-;-) |
| Significance | Pathogenic |
| Disease | Short stature |
| Variation | info |
| Gene | SHOX |
| CLNDBN | Short stature, idiopathic, X-linked |
| Reversed | 0 |
| HGVS | NC_000023.10:g.585124_585125insTGT |
| CLNSRC | |
| CLNACC | RCV000190325.1, |
