rs730880281
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs730880281(G;T) |
| Make rs730880281(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 5 |
| Position | 42711206 |
| Gene | GHR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs730880281 |
| dbSNP (classic) | rs730880281 |
| ClinGen | rs730880281 |
| ebi | rs730880281 |
| HLI | rs730880281 |
| Exac | rs730880281 |
| Gnomad | rs730880281 |
| Varsome | rs730880281 |
| LitVar | rs730880281 |
| Map | rs730880281 |
| PheGenI | rs730880281 |
| Biobank | rs730880281 |
| 1000 genomes | rs730880281 |
| hgdp | rs730880281 |
| ensembl | rs730880281 |
| geneview | rs730880281 |
| scholar | rs730880281 |
| rs730880281 | |
| pharmgkb | rs730880281 |
| gwascentral | rs730880281 |
| openSNP | rs730880281 |
| 23andMe | rs730880281 |
| SNPshot | rs730880281 |
| SNPdbe | rs730880281 |
| MSV3d | rs730880281 |
| GWAS Ctlg | rs730880281 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs730880281(T;T) |
| Alt | rs730880281(T;T) |
| Reference | Rs730880281(G;G) |
| Significance | Pathogenic |
| Disease | Laron-type isolated somatotropin defect |
| Variation | info |
| Gene | GHR |
| CLNDBN | Laron-type isolated somatotropin defect |
| Reversed | 0 |
| HGVS | NC_000005.9:g.42711308G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000009174.3, |
