rs45588036
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs45588036(C;C) |
| Make rs45588036(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 42711314 |
| Gene | GHR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs45588036 |
| dbSNP (classic) | rs45588036 |
| ClinGen | rs45588036 |
| ebi | rs45588036 |
| HLI | rs45588036 |
| Exac | rs45588036 |
| Gnomad | rs45588036 |
| Varsome | rs45588036 |
| LitVar | rs45588036 |
| Map | rs45588036 |
| PheGenI | rs45588036 |
| Biobank | rs45588036 |
| 1000 genomes | rs45588036 |
| hgdp | rs45588036 |
| ensembl | rs45588036 |
| geneview | rs45588036 |
| scholar | rs45588036 |
| rs45588036 | |
| pharmgkb | rs45588036 |
| gwascentral | rs45588036 |
| openSNP | rs45588036 |
| 23andMe | rs45588036 |
| SNPshot | rs45588036 |
| SNPdbe | rs45588036 |
| MSV3d | rs45588036 |
| GWAS Ctlg | rs45588036 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs45588036(C;C) |
| Alt | rs45588036(C;C) |
| Reference | Rs45588036(G;G) |
| Significance | Pathogenic |
| Disease | Short stature |
| Variation | info |
| Gene | GHR |
| CLNDBN | Short stature, idiopathic, autosomal |
| Reversed | 0 |
| HGVS | NC_000005.9:g.42711416G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009170.3, |
