rs193922371
From SNPedia
| Merged into | rs63750245 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs193922371(C;T) |
| Make rs193922371(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 47416383 |
| Gene | MSH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922371 |
| dbSNP (classic) | rs193922371 |
| ClinGen | rs193922371 |
| ebi | rs193922371 |
| HLI | rs193922371 |
| Exac | rs193922371 |
| Gnomad | rs193922371 |
| Varsome | rs193922371 |
| LitVar | rs193922371 |
| Map | rs193922371 |
| PheGenI | rs193922371 |
| Biobank | rs193922371 |
| 1000 genomes | rs193922371 |
| hgdp | rs193922371 |
| ensembl | rs193922371 |
| geneview | rs193922371 |
| scholar | rs193922371 |
| rs193922371 | |
| pharmgkb | rs193922371 |
| gwascentral | rs193922371 |
| openSNP | rs193922371 |
| 23andMe | rs193922371 |
| SNPshot | rs193922371 |
| SNPdbe | rs193922371 |
| MSV3d | rs193922371 |
| GWAS Ctlg | rs193922371 |
| Status | Merged into rs63750245 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922371(T;T) |
| Alt | rs193922371(T;T) |
| Reference | Rs193922371(C;C) |
| Significance | Pathogenic |
| Disease | Hereditary non-polyposis colon cancer |
| Variation | info |
| Gene | |
| CLNDBN | Hereditary non-polyposis colon cancer |
| Reversed | 0 |
| HGVS | NC_000002.11:g.47643522C>T |
| CLNSRC | Correlagen |
| CLNACC | |
[PMID 12655568] Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia.
[PMID 15571801] Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer.
[PMID 18772310] Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors.
