rs193922370
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6 | Lynch syndrome, pathogenic mutation |
| (G;G) | 0 | common in clinvar |
| (G;T) | 6 | Lynch syndrome, pathogenic mutation |
| Make rs193922370(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 37008813 |
| Gene | MLH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922370 |
| dbSNP (classic) | rs193922370 |
| ClinGen | rs193922370 |
| ebi | rs193922370 |
| HLI | rs193922370 |
| Exac | rs193922370 |
| Gnomad | rs193922370 |
| Varsome | rs193922370 |
| LitVar | rs193922370 |
| Map | rs193922370 |
| PheGenI | rs193922370 |
| Biobank | rs193922370 |
| 1000 genomes | rs193922370 |
| hgdp | rs193922370 |
| ensembl | rs193922370 |
| geneview | rs193922370 |
| scholar | rs193922370 |
| rs193922370 | |
| pharmgkb | rs193922370 |
| gwascentral | rs193922370 |
| openSNP | rs193922370 |
| 23andMe | rs193922370 |
| SNPshot | rs193922370 |
| SNPdbe | rs193922370 |
| MSV3d | rs193922370 |
| GWAS Ctlg | rs193922370 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs193922370(A;A) rs193922370(C;C) rs193922370(T;T) |
| Alt | rs193922370(A;A) rs193922370(C;C) rs193922370(T;T) |
| Reference | Rs193922370(G;G) |
| Significance | Pathogenic |
| Disease | Lynch syndrome Lynch syndrome II |
| Variation | info |
| Gene | MLH1 |
| CLNDBN | Lynch syndrome Lynch syndrome II |
| Reversed | 0 |
| HGVS | NC_000003.11:g.37050304G>A; NC_000003.11:g.37050304G>C; NC_000003.11:g.37050304G>T |
| CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
| CLNACC | RCV000030226.3, RCV000410339.1, RCV000472090.1, RCV000075720.2, |
[PMID 7584997] Founding mutations and Alu-mediated recombination in hereditary colon cancer.
