rs397518440
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;C) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
| (C;C) | 0 | common in clinvar |
| Make rs397518440(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 1219367 |
| Gene | STK11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397518440 |
| dbSNP (classic) | rs397518440 |
| ClinGen | rs397518440 |
| ebi | rs397518440 |
| HLI | rs397518440 |
| Exac | rs397518440 |
| Gnomad | rs397518440 |
| Varsome | rs397518440 |
| LitVar | rs397518440 |
| Map | rs397518440 |
| PheGenI | rs397518440 |
| Biobank | rs397518440 |
| 1000 genomes | rs397518440 |
| hgdp | rs397518440 |
| ensembl | rs397518440 |
| geneview | rs397518440 |
| scholar | rs397518440 |
| rs397518440 | |
| pharmgkb | rs397518440 |
| gwascentral | rs397518440 |
| openSNP | rs397518440 |
| 23andMe | rs397518440 |
| SNPshot | rs397518440 |
| SNPdbe | rs397518440 |
| MSV3d | rs397518440 |
| GWAS Ctlg | rs397518440 |
| Max Magnitude | 5.8 |
c.418delC (p.Leu140Trpfs)
| ClinVar | |
|---|---|
| Risk | rs397518440(-;-) |
| Alt | rs397518440(-;-) |
| Reference | Rs397518440(C;C) |
| 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.1219366delC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007875.5, RCV000492134.1, |
