rs587778913
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6 | Lynch syndrome, pathogenic mutation |
| Make rs587778913(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 3 |
| Position | 36996644 |
| Gene | MLH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587778913 |
| dbSNP (classic) | rs587778913 |
| ClinGen | rs587778913 |
| ebi | rs587778913 |
| HLI | rs587778913 |
| Exac | rs587778913 |
| Gnomad | rs587778913 |
| Varsome | rs587778913 |
| LitVar | rs587778913 |
| Map | rs587778913 |
| PheGenI | rs587778913 |
| Biobank | rs587778913 |
| 1000 genomes | rs587778913 |
| hgdp | rs587778913 |
| ensembl | rs587778913 |
| geneview | rs587778913 |
| scholar | rs587778913 |
| rs587778913 | |
| pharmgkb | rs587778913 |
| gwascentral | rs587778913 |
| openSNP | rs587778913 |
| 23andMe | rs587778913 |
| SNPshot | rs587778913 |
| SNPdbe | rs587778913 |
| MSV3d | rs587778913 |
| GWAS Ctlg | rs587778913 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs587778913(T;T) |
| Alt | rs587778913(T;T) |
| Reference | Rs587778913(C;C) |
| Significance | Pathogenic |
| Disease | Lynch syndrome not provided |
| Variation | info |
| Gene | MLH1 |
| CLNDBN | Lynch syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000003.11:g.37038135C>T |
| CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
| CLNACC | RCV000075212.2, RCV000219426.1, |
