rs267607944
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;G) | 6 | Likely miscall in Ancestry data; otherwise, Lynch syndrome, pathogenic mutation |
| (G;G) | 0 | common in clinvar |
| (G;T) | 6 | Lynch syndrome, pathogenic mutation |
| Make rs267607944(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 47429741 |
| Gene | MSH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs267607944 |
| dbSNP (classic) | rs267607944 |
| ClinGen | rs267607944 |
| ebi | rs267607944 |
| HLI | rs267607944 |
| Exac | rs267607944 |
| Gnomad | rs267607944 |
| Varsome | rs267607944 |
| LitVar | rs267607944 |
| Map | rs267607944 |
| PheGenI | rs267607944 |
| Biobank | rs267607944 |
| 1000 genomes | rs267607944 |
| hgdp | rs267607944 |
| ensembl | rs267607944 |
| geneview | rs267607944 |
| scholar | rs267607944 |
| rs267607944 | |
| pharmgkb | rs267607944 |
| gwascentral | rs267607944 |
| openSNP | rs267607944 |
| 23andMe | rs267607944 |
| SNPshot | rs267607944 |
| SNPdbe | rs267607944 |
| MSV3d | rs267607944 |
| GWAS Ctlg | rs267607944 |
| Max Magnitude | 6 |
aka c.1077-1G>C (or, c.1077-1G>T)
Two ClinVar submitters assess c.1077-1G>C as pathogenic or likely to be pathogenic for Lynch Syndrome; the c.1077-1G>T mutation is assessed by one submitter as likely to be pathogenic.
| ClinVar | |
|---|---|
| Risk | rs267607944(C;C) rs267607944(T;T) |
| Alt | rs267607944(C;C) rs267607944(T;T) |
| Reference | Rs267607944(G;G) |
| 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.47656880G>C; NC_000002.11:g.47656880G>T |
| CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
| CLNACC | RCV000076019.2, RCV000491682.1, RCV000076020.2, |
