rs63751449
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 7 | Lynch syndrome; hereditary nonpolyposis colorectal cancer-1 |
| (-;A) | 6 | Lynch syndrome |
| (A;A) | 0 | common in clinvar |
| (I;I) | 0 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 47410181 |
| Gene | MSH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63751449 |
| dbSNP (classic) | rs63751449 |
| ClinGen | rs63751449 |
| ebi | rs63751449 |
| HLI | rs63751449 |
| Exac | rs63751449 |
| Gnomad | rs63751449 |
| Varsome | rs63751449 |
| LitVar | rs63751449 |
| Map | rs63751449 |
| PheGenI | rs63751449 |
| Biobank | rs63751449 |
| 1000 genomes | rs63751449 |
| hgdp | rs63751449 |
| ensembl | rs63751449 |
| geneview | rs63751449 |
| scholar | rs63751449 |
| rs63751449 | |
| pharmgkb | rs63751449 |
| gwascentral | rs63751449 |
| openSNP | rs63751449 |
| 23andMe | rs63751449 |
| SNPshot | rs63751449 |
| SNPdbe | rs63751449 |
| MSV3d | rs63751449 |
| GWAS Ctlg | rs63751449 |
| Max Magnitude | 7 |
rs63751449 is a SNP in the MSH2 gene on chromosome 2, associated with Lynch syndrome (HNPCC).[PMID 12549480
]
This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249]
See also OMIM 609309.0016
| ClinVar | |
|---|---|
| Risk | Rs63751449(-;-) |
| Alt | Rs63751449(-;-) |
| Reference | Rs63751449(A;A) |
| Significance | Pathogenic |
| Disease | Turcot syndrome Lynch syndrome |
| Variation | info |
| Gene | MSH2 |
| CLNDBN | Turcot syndrome Lynch syndrome |
| Reversed | 0 |
| HGVS | NC_000002.11:g.47637320delA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000001839.2, RCV000076602.2, |
