rs6413484
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs6413484(A;A) |
| Make rs6413484(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 42699868 |
| Gene | GHR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6413484 |
| dbSNP (classic) | rs6413484 |
| ClinGen | rs6413484 |
| ebi | rs6413484 |
| HLI | rs6413484 |
| Exac | rs6413484 |
| Gnomad | rs6413484 |
| Varsome | rs6413484 |
| LitVar | rs6413484 |
| Map | rs6413484 |
| PheGenI | rs6413484 |
| Biobank | rs6413484 |
| 1000 genomes | rs6413484 |
| hgdp | rs6413484 |
| ensembl | rs6413484 |
| geneview | rs6413484 |
| scholar | rs6413484 |
| rs6413484 | |
| pharmgkb | rs6413484 |
| gwascentral | rs6413484 |
| openSNP | rs6413484 |
| 23andMe | rs6413484 |
| SNPshot | rs6413484 |
| SNPdbe | rs6413484 |
| MSV3d | rs6413484 |
| GWAS Ctlg | rs6413484 |
| GMAF | 0.005969 |
| Max Magnitude | 0 |
| ? | (G;G) | |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs6413484(A;A) rs6413484(T;T) |
| Alt | rs6413484(A;A) rs6413484(T;T) |
| Reference | Rs6413484(G;G) |
| Significance | Pathogenic |
| Disease | Short stature |
| Variation | info |
| Gene | GHR |
| CLNDBN | Short stature, idiopathic, autosomal |
| Reversed | 0 |
| HGVS | NC_000005.9:g.42699970G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009184.4, |
