rs587779064
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;C) | 6 | Lynch syndrome, pathogenic mutation |
| (C;C) | 0 | common in clinvar |
| Make rs587779064(-;-) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 2 |
| Position | 47416360 |
| Gene | MSH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587779064 |
| dbSNP (classic) | rs587779064 |
| ClinGen | rs587779064 |
| ebi | rs587779064 |
| HLI | rs587779064 |
| Exac | rs587779064 |
| Gnomad | rs587779064 |
| Varsome | rs587779064 |
| LitVar | rs587779064 |
| Map | rs587779064 |
| PheGenI | rs587779064 |
| Biobank | rs587779064 |
| 1000 genomes | rs587779064 |
| hgdp | rs587779064 |
| ensembl | rs587779064 |
| geneview | rs587779064 |
| scholar | rs587779064 |
| rs587779064 | |
| pharmgkb | rs587779064 |
| gwascentral | rs587779064 |
| openSNP | rs587779064 |
| 23andMe | rs587779064 |
| SNPshot | rs587779064 |
| SNPdbe | rs587779064 |
| MSV3d | rs587779064 |
| GWAS Ctlg | rs587779064 |
| Max Magnitude | 6 |
aka both c.1007delC and c.1007dupC; both are considered in ClinVar to be pathogenic for Lynch syndrome
| ClinVar | |
|---|---|
| Risk | rs587779064(-;-) |
| Alt | rs587779064(-;-) |
| Reference | Rs587779064(C;C) |
| Significance | Pathogenic |
| Disease | Lynch syndrome |
| Variation | info |
| Gene | MSH2 |
| CLNDBN | Lynch syndrome |
| Reversed | 0 |
| HGVS | NC_000002.11:g.47643499delC |
| CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
| CLNACC | RCV000075996.2, |
