rs786201047
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 6 | Lynch syndrome |
| Make rs786201047(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 7 |
| Position | 5995628 |
| Gene | PMS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786201047 |
| dbSNP (classic) | rs786201047 |
| ClinGen | rs786201047 |
| ebi | rs786201047 |
| HLI | rs786201047 |
| Exac | rs786201047 |
| Gnomad | rs786201047 |
| Varsome | rs786201047 |
| LitVar | rs786201047 |
| Map | rs786201047 |
| PheGenI | rs786201047 |
| Biobank | rs786201047 |
| 1000 genomes | rs786201047 |
| hgdp | rs786201047 |
| ensembl | rs786201047 |
| geneview | rs786201047 |
| scholar | rs786201047 |
| rs786201047 | |
| pharmgkb | rs786201047 |
| gwascentral | rs786201047 |
| openSNP | rs786201047 |
| 23andMe | rs786201047 |
| SNPshot | rs786201047 |
| SNPdbe | rs786201047 |
| MSV3d | rs786201047 |
| GWAS Ctlg | rs786201047 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs786201047(G;G) |
| Alt | rs786201047(G;G) |
| Reference | Rs786201047(C;C) |
| Significance | Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | PMS2 |
| CLNDBN | Hereditary cancer-predisposing syndrome |
| Reversed | 1 |
| HGVS | NC_000007.13:g.6035259G>C |
| CLNSRC | |
| CLNACC | RCV000162437.1, |
