rs200640585
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6 | Lynch syndrome, pathogenic mutation |
| (C;T) | 6 | Lynch syndrome |
| (G;G) | 0 | common in clinvar |
| Make rs200640585(A;A) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 7 |
| Position | 5992018 |
| Gene | PMS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200640585 |
| dbSNP (classic) | rs200640585 |
| ClinGen | rs200640585 |
| ebi | rs200640585 |
| HLI | rs200640585 |
| Exac | rs200640585 |
| Gnomad | rs200640585 |
| Varsome | rs200640585 |
| LitVar | rs200640585 |
| Map | rs200640585 |
| PheGenI | rs200640585 |
| Biobank | rs200640585 |
| 1000 genomes | rs200640585 |
| hgdp | rs200640585 |
| ensembl | rs200640585 |
| geneview | rs200640585 |
| scholar | rs200640585 |
| rs200640585 | |
| pharmgkb | rs200640585 |
| gwascentral | rs200640585 |
| openSNP | rs200640585 |
| 23andMe | rs200640585 |
| SNPshot | rs200640585 |
| SNPdbe | rs200640585 |
| MSV3d | rs200640585 |
| GWAS Ctlg | rs200640585 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs200640585(A;A) |
| Alt | rs200640585(A;A) |
| Reference | Rs200640585(G;G) |
| Significance | Pathogenic |
| Disease | Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer not provided |
| Variation | info |
| Gene | PMS2 |
| CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome Colorectal cancer, non-polyposis not provided |
| Reversed | 0 |
| HGVS | NC_000007.13:g.6031649G>A |
| CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
| CLNACC | RCV000076901.2, RCV000115711.4, RCV000148734.1, RCV000212858.1, |
