rs786201090
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 5.8 | STK11 gene mutation associated with Peutz-Jeghers syndrome |
| Make rs786201090(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 19 |
| Position | 1221996 |
| Gene | STK11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786201090 |
| dbSNP (classic) | rs786201090 |
| ClinGen | rs786201090 |
| ebi | rs786201090 |
| HLI | rs786201090 |
| Exac | rs786201090 |
| Gnomad | rs786201090 |
| Varsome | rs786201090 |
| LitVar | rs786201090 |
| Map | rs786201090 |
| PheGenI | rs786201090 |
| Biobank | rs786201090 |
| 1000 genomes | rs786201090 |
| hgdp | rs786201090 |
| ensembl | rs786201090 |
| geneview | rs786201090 |
| scholar | rs786201090 |
| rs786201090 | |
| pharmgkb | rs786201090 |
| gwascentral | rs786201090 |
| openSNP | rs786201090 |
| 23andMe | rs786201090 |
| SNPshot | rs786201090 |
| SNPdbe | rs786201090 |
| MSV3d | rs786201090 |
| GWAS Ctlg | rs786201090 |
| Max Magnitude | 5.8 |
c.910C>T (p.Arg304Trp)
23andMe name: i6018846
| ClinVar | |
|---|---|
| Risk | rs786201090(T;T) |
| Alt | rs786201090(T;T) |
| Reference | Rs786201090(C;C) |
| Significance | Other |
| Disease | Hereditary cancer-predisposing syndrome not provided Peutz-Jeghers syndrome |
| Variation | info |
| Gene | STK11 |
| CLNDBN | Hereditary cancer-predisposing syndrome not provided Peutz-Jeghers syndrome |
| Reversed | 0 |
| HGVS | NC_000019.9:g.1221995C>T |
| CLNSRC | |
| CLNACC | RCV000162596.3, RCV000256082.2, RCV000435642.1, |
