rs398123406
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;G) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
| (G;G) | 0 | common in clinvar |
| (G;T) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
| Make rs398123406(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 1222984 |
| Gene | STK11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398123406 |
| dbSNP (classic) | rs398123406 |
| ClinGen | rs398123406 |
| ebi | rs398123406 |
| HLI | rs398123406 |
| Exac | rs398123406 |
| Gnomad | rs398123406 |
| Varsome | rs398123406 |
| LitVar | rs398123406 |
| Map | rs398123406 |
| PheGenI | rs398123406 |
| Biobank | rs398123406 |
| 1000 genomes | rs398123406 |
| hgdp | rs398123406 |
| ensembl | rs398123406 |
| geneview | rs398123406 |
| scholar | rs398123406 |
| rs398123406 | |
| pharmgkb | rs398123406 |
| gwascentral | rs398123406 |
| openSNP | rs398123406 |
| 23andMe | rs398123406 |
| SNPshot | rs398123406 |
| SNPdbe | rs398123406 |
| MSV3d | rs398123406 |
| GWAS Ctlg | rs398123406 |
| Max Magnitude | 5.8 |
rs398123406, also known as c.921-1G>T, represents a rare variant in the STK11 gene on chromosome 19.
In ClinVar, there is one group reporting the rs398123406(T) variant to be a pathogenic mutation associated with Peutz-Jeghers syndrome, presumably inherited in a dominant manner.
| ClinVar | |
|---|---|
| Risk | rs398123406(C;C) rs398123406(T;T) |
| Alt | rs398123406(C;C) rs398123406(T;T) |
| Reference | Rs398123406(G;G) |
| Significance | Pathogenic |
| Disease | not provided Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome |
| Variation | info |
| Gene | STK11 |
| CLNDBN | not provided Hereditary cancer-predisposing syndrome Peutz-Jeghers syndrome |
| Reversed | 0 |
| HGVS | NC_000019.9:g.1222983G>C; NC_000019.9:g.1222983G>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000414694.1, RCV000492537.1, RCV000078915.4, |
