rs137852552
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs137852552(C;T) |
| Make rs137852552(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 641037 |
| Gene | SHOX |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137852552 |
| dbSNP (classic) | rs137852552 |
| ClinGen | rs137852552 |
| ebi | rs137852552 |
| HLI | rs137852552 |
| Exac | rs137852552 |
| Gnomad | rs137852552 |
| Varsome | rs137852552 |
| LitVar | rs137852552 |
| Map | rs137852552 |
| PheGenI | rs137852552 |
| Biobank | rs137852552 |
| 1000 genomes | rs137852552 |
| hgdp | rs137852552 |
| ensembl | rs137852552 |
| geneview | rs137852552 |
| scholar | rs137852552 |
| rs137852552 | |
| pharmgkb | rs137852552 |
| gwascentral | rs137852552 |
| openSNP | rs137852552 |
| 23andMe | rs137852552 |
| SNPshot | rs137852552 |
| SNPdbe | rs137852552 |
| MSV3d | rs137852552 |
| GWAS Ctlg | rs137852552 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137852552(A;A) rs137852552(T;T) |
| Alt | rs137852552(A;A) rs137852552(T;T) |
| Reference | Rs137852552(C;C) |
| Significance | Pathogenic |
| Disease | Short stature |
| Variation | info |
| Gene | SHOX |
| CLNDBN | Short stature, idiopathic, X-linked |
| Reversed | 0 |
| HGVS | NC_000023.10:g.601772C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000010547.3, |
[PMID 17047] [In memoriam: Dr. Fritz Arndts].
[PMID 10634394] Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone.
[PMID 10749976] The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.
[PMID 11739418] Phenotypes Associated with SHOX Deficiency.
[PMID 12362035
] Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood.
[PMID 17028440] Unique deletion in exon 5 of SHOX gene in a patient with idiopathic short stature.
