rs267607718
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5 | linked to certain hereditary cancers |
| (G;G) | 0 | common in clinvar |
| (G;T) | 6 | Lynch syndrome, pathogenic mutation |
| Make rs267607718(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 36996710 |
| Gene | MLH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs267607718 |
| dbSNP (classic) | rs267607718 |
| ClinGen | rs267607718 |
| ebi | rs267607718 |
| HLI | rs267607718 |
| Exac | rs267607718 |
| Gnomad | rs267607718 |
| Varsome | rs267607718 |
| LitVar | rs267607718 |
| Map | rs267607718 |
| PheGenI | rs267607718 |
| Biobank | rs267607718 |
| 1000 genomes | rs267607718 |
| hgdp | rs267607718 |
| ensembl | rs267607718 |
| geneview | rs267607718 |
| scholar | rs267607718 |
| rs267607718 | |
| pharmgkb | rs267607718 |
| gwascentral | rs267607718 |
| openSNP | rs267607718 |
| 23andMe | rs267607718 |
| SNPshot | rs267607718 |
| SNPdbe | rs267607718 |
| MSV3d | rs267607718 |
| GWAS Ctlg | rs267607718 |
| Max Magnitude | 6 |
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer [PMID 27978560
]
| ClinVar | |
|---|---|
| Risk | rs267607718(A;A) rs267607718(T;T) |
| Alt | rs267607718(A;A) rs267607718(T;T) |
| Reference | Rs267607718(G;G) |
| Significance | Pathogenic |
| Disease | Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
| Variation | info |
| Gene | MLH1 |
| CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000003.11:g.37038201G>A; NC_000003.11:g.37038201G>T |
| CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
| CLNACC | RCV000075505.2, RCV000128866.3, RCV000202020.1, RCV000075506.2, |
