rs587777289
From SNPedia
| Orientation | plus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (G;G) | 0 | common in clinvar |
| Make rs587777289(A;A) |
| Make rs587777289(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 14 |
| Position | 94769173 |
| Gene | DIGIT, GSC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587777289 |
| dbSNP (classic) | rs587777289 |
| ClinGen | rs587777289 |
| ebi | rs587777289 |
| HLI | rs587777289 |
| Exac | rs587777289 |
| Gnomad | rs587777289 |
| Varsome | rs587777289 |
| LitVar | rs587777289 |
| Map | rs587777289 |
| PheGenI | rs587777289 |
| Biobank | rs587777289 |
| 1000 genomes | rs587777289 |
| hgdp | rs587777289 |
| ensembl | rs587777289 |
| geneview | rs587777289 |
| scholar | rs587777289 |
| rs587777289 | |
| pharmgkb | rs587777289 |
| gwascentral | rs587777289 |
| openSNP | rs587777289 |
| 23andMe | rs587777289 |
| SNPshot | rs587777289 |
| SNPdbe | rs587777289 |
| MSV3d | rs587777289 |
| GWAS Ctlg | rs587777289 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs587777289(A;A) Rs587777289(G;G) |
| Alt | rs587777289(A;A) Rs587777289(G;G) |
| Reference | Rs587777289(C;C) |
| Significance | Pathogenic |
| Disease | Short stature |
| Variation | info |
| Gene | GSC |
| CLNDBN | Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities |
| Reversed | 1 |
| HGVS | NC_000014.8:g.95235510G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000114412.2, |
