rs376280361
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 |
| Make rs376280361(A;A) |
| Make rs376280361(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 19 |
| Position | 1221997 |
| Gene | STK11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs376280361 |
| dbSNP (classic) | rs376280361 |
| ClinGen | rs376280361 |
| ebi | rs376280361 |
| HLI | rs376280361 |
| Exac | rs376280361 |
| Gnomad | rs376280361 |
| Varsome | rs376280361 |
| LitVar | rs376280361 |
| Map | rs376280361 |
| PheGenI | rs376280361 |
| Biobank | rs376280361 |
| 1000 genomes | rs376280361 |
| hgdp | rs376280361 |
| ensembl | rs376280361 |
| geneview | rs376280361 |
| scholar | rs376280361 |
| rs376280361 | |
| pharmgkb | rs376280361 |
| gwascentral | rs376280361 |
| openSNP | rs376280361 |
| 23andMe | rs376280361 |
| SNPshot | rs376280361 |
| SNPdbe | rs376280361 |
| MSV3d | rs376280361 |
| GWAS Ctlg | rs376280361 |
| Max Magnitude | 5.8 |
c.911G>C (p.Arg304Pro)
23andMe name: i6018851
| ClinVar | |
|---|---|
| Risk | rs376280361(A;A) |
| Alt | rs376280361(A;A) |
| Reference | Rs376280361(G;G) |
| Significance | Pathogenic |
| Disease | not specified Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | STK11 |
| CLNDBN | not specified Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000019.9:g.1221996G>A; NC_000019.9:g.1221996G>C |
| CLNSRC | |
| CLNACC | RCV000479636.1, RCV000492320.1, |
