rs863224448
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
| (G;G) | 0 | common in clinvar |
| Make rs863224448(A;A) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 19 |
| Position | 1221948 |
| Gene | STK11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs863224448 |
| dbSNP (classic) | rs863224448 |
| ClinGen | rs863224448 |
| ebi | rs863224448 |
| HLI | rs863224448 |
| Exac | rs863224448 |
| Gnomad | rs863224448 |
| Varsome | rs863224448 |
| LitVar | rs863224448 |
| Map | rs863224448 |
| PheGenI | rs863224448 |
| Biobank | rs863224448 |
| 1000 genomes | rs863224448 |
| hgdp | rs863224448 |
| ensembl | rs863224448 |
| geneview | rs863224448 |
| scholar | rs863224448 |
| rs863224448 | |
| pharmgkb | rs863224448 |
| gwascentral | rs863224448 |
| openSNP | rs863224448 |
| 23andMe | rs863224448 |
| SNPshot | rs863224448 |
| SNPdbe | rs863224448 |
| MSV3d | rs863224448 |
| GWAS Ctlg | rs863224448 |
| Max Magnitude | 5.8 |
| ClinVar | |
|---|---|
| Risk | rs863224448(A;A) |
| Alt | rs863224448(A;A) |
| Reference | Rs863224448(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Peutz-Jeghers syndrome |
| Variation | info |
| Gene | STK11 |
| CLNDBN | Peutz-Jeghers syndrome |
| Reversed | 0 |
| HGVS | NC_000019.9:g.1221947G>A |
| CLNSRC | |
| CLNACC | RCV000196256.1, |
