rs193922373
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs193922373(A;A) |
| Make rs193922373(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 47408493 |
| Gene | MSH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922373 |
| dbSNP (classic) | rs193922373 |
| ClinGen | rs193922373 |
| ebi | rs193922373 |
| HLI | rs193922373 |
| Exac | rs193922373 |
| Gnomad | rs193922373 |
| Varsome | rs193922373 |
| LitVar | rs193922373 |
| Map | rs193922373 |
| PheGenI | rs193922373 |
| Biobank | rs193922373 |
| 1000 genomes | rs193922373 |
| hgdp | rs193922373 |
| ensembl | rs193922373 |
| geneview | rs193922373 |
| scholar | rs193922373 |
| rs193922373 | |
| pharmgkb | rs193922373 |
| gwascentral | rs193922373 |
| openSNP | rs193922373 |
| 23andMe | rs193922373 |
| SNPshot | rs193922373 |
| SNPdbe | rs193922373 |
| MSV3d | rs193922373 |
| GWAS Ctlg | rs193922373 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922373(A;A) |
| Alt | rs193922373(A;A) |
| Reference | Rs193922373(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Lynch syndrome Hereditary cancer-predisposing syndrome not specified |
| Variation | info |
| Gene | MSH2 |
| CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome not specified |
| Reversed | 0 |
| HGVS | NC_000002.11:g.47635632G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000030251.3, RCV000130254.3, RCV000236541.1, |
[PMID 12200596] Impact of microsatellite testing and mismatch repair protein expression on the clinical interpretation of genetic testing in hereditary non-polyposis colorectal cancer.
[PMID 17192056] The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome.
[PMID 18383312] Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
