rs137854584
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
| Make rs137854584(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 1207082 |
| Gene | STK11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137854584 |
| dbSNP (classic) | rs137854584 |
| ClinGen | rs137854584 |
| ebi | rs137854584 |
| HLI | rs137854584 |
| Exac | rs137854584 |
| Gnomad | rs137854584 |
| Varsome | rs137854584 |
| LitVar | rs137854584 |
| Map | rs137854584 |
| PheGenI | rs137854584 |
| Biobank | rs137854584 |
| 1000 genomes | rs137854584 |
| hgdp | rs137854584 |
| ensembl | rs137854584 |
| geneview | rs137854584 |
| scholar | rs137854584 |
| rs137854584 | |
| pharmgkb | rs137854584 |
| gwascentral | rs137854584 |
| openSNP | rs137854584 |
| 23andMe | rs137854584 |
| SNPshot | rs137854584 |
| SNPdbe | rs137854584 |
| MSV3d | rs137854584 |
| GWAS Ctlg | rs137854584 |
| Max Magnitude | 5.8 |
c.169G>T (p.Glu57Ter)
23andMe name: i5006535
| ClinVar | |
|---|---|
| Risk | rs137854584(T;T) |
| Alt | rs137854584(T;T) |
| Reference | Rs137854584(G;G) |
| Significance | Pathogenic |
| Disease | Peutz-Jeghers syndrome |
| Variation | info |
| Gene | STK11 |
| CLNDBN | Peutz-Jeghers syndrome |
| Reversed | 0 |
| HGVS | NC_000019.9:g.1207081G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007873.4, |
