rs587779136
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 6 | Lynch syndrome, pathogenic mutation |
| Make rs587779136(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 2 |
| Position | 47476457 |
| Gene | MSH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587779136 |
| dbSNP (classic) | rs587779136 |
| ClinGen | rs587779136 |
| ebi | rs587779136 |
| HLI | rs587779136 |
| Exac | rs587779136 |
| Gnomad | rs587779136 |
| Varsome | rs587779136 |
| LitVar | rs587779136 |
| Map | rs587779136 |
| PheGenI | rs587779136 |
| Biobank | rs587779136 |
| 1000 genomes | rs587779136 |
| hgdp | rs587779136 |
| ensembl | rs587779136 |
| geneview | rs587779136 |
| scholar | rs587779136 |
| rs587779136 | |
| pharmgkb | rs587779136 |
| gwascentral | rs587779136 |
| openSNP | rs587779136 |
| 23andMe | rs587779136 |
| SNPshot | rs587779136 |
| SNPdbe | rs587779136 |
| MSV3d | rs587779136 |
| GWAS Ctlg | rs587779136 |
| Max Magnitude | 6 |
aka c.2096C>G (p.Ser699Ter) as well as c.2096C>T (p.Ser699Leu); the former is annotated as pathogenic for Lynch syndrome in ClinVar, while the latter is a variant of uncertain significance.
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer [PMID 27978560
]
| ClinVar | |
|---|---|
| Risk | rs587779136(G;G) rs587779136(T;T) |
| Alt | rs587779136(G;G) rs587779136(T;T) |
| Reference | Rs587779136(C;C) |
| Significance | Pathogenic |
| Disease | Lynch syndrome Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | MSH2 |
| CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000002.11:g.47703596C>G; NC_000002.11:g.47703596C>T |
| CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
| CLNACC | RCV000076387.2, RCV000490933.1, RCV000204689.1, |
