rs121913321
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 rs121913321(-;-) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 19 |
| Position | 1221320 |
| Gene | STK11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121913321 |
| dbSNP (classic) | rs121913321 |
| ClinGen | rs121913321 |
| ebi | rs121913321 |
| HLI | rs121913321 |
| Exac | rs121913321 |
| Gnomad | rs121913321 |
| Varsome | rs121913321 |
| LitVar | rs121913321 |
| Map | rs121913321 |
| PheGenI | rs121913321 |
| Biobank | rs121913321 |
| 1000 genomes | rs121913321 |
| hgdp | rs121913321 |
| ensembl | rs121913321 |
| geneview | rs121913321 |
| scholar | rs121913321 |
| rs121913321 | |
| pharmgkb | rs121913321 |
| gwascentral | rs121913321 |
| openSNP | rs121913321 |
| 23andMe | rs121913321 |
| SNPshot | rs121913321 |
| SNPdbe | rs121913321 |
| MSV3d | rs121913321 |
| GWAS Ctlg | rs121913321 |
| Max Magnitude | 5.8 |
c.842delC (p.Pro281Argfs)
| ClinVar | |
|---|---|
| Risk | rs121913321(-;-) |
| Alt | rs121913321(-;-) |
| Reference | Rs121913321(C;C) |
| Significance | Pathogenic |
| Disease | Peutz-Jeghers syndrome |
| Variation | info |
| Gene | STK11 |
| CLNDBN | Peutz-Jeghers syndrome |
| Reversed | 0 |
| HGVS | NC_000019.9:g.1221319delC |
| CLNSRC | |
| CLNACC | RCV000172825.3, |
