rs398123404
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;G) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
| Make rs398123404(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 1207082 |
| Gene | STK11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398123404 |
| dbSNP (classic) | rs398123404 |
| ClinGen | rs398123404 |
| ebi | rs398123404 |
| HLI | rs398123404 |
| Exac | rs398123404 |
| Gnomad | rs398123404 |
| Varsome | rs398123404 |
| LitVar | rs398123404 |
| Map | rs398123404 |
| PheGenI | rs398123404 |
| Biobank | rs398123404 |
| 1000 genomes | rs398123404 |
| hgdp | rs398123404 |
| ensembl | rs398123404 |
| geneview | rs398123404 |
| scholar | rs398123404 |
| rs398123404 | |
| pharmgkb | rs398123404 |
| gwascentral | rs398123404 |
| openSNP | rs398123404 |
| 23andMe | rs398123404 |
| SNPshot | rs398123404 |
| SNPdbe | rs398123404 |
| MSV3d | rs398123404 |
| GWAS Ctlg | rs398123404 |
| Max Magnitude | 5.8 |
c.169dupG (p.Glu57Glyfs)
| ClinVar | |
|---|---|
| Risk | rs398123404(G;G) |
| Alt | rs398123404(G;G) |
| Reference | Rs398123404(-;-) |
| Significance | Pathogenic |
| Disease | Peutz-Jeghers syndrome Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | STK11 |
| CLNDBN | Peutz-Jeghers syndrome Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000019.9:g.1207081dupG |
| CLNSRC | HGMD |
| CLNACC | RCV000078911.4, RCV000492387.1, |
