rs63750068
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;A) | 6 | Lynch syndrome, pathogenic mutation |
| (A;A) | 0 | common in clinvar |
| Make rs63750068(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 47463088 |
| Gene | MSH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750068 |
| dbSNP (classic) | rs63750068 |
| ClinGen | rs63750068 |
| ebi | rs63750068 |
| HLI | rs63750068 |
| Exac | rs63750068 |
| Gnomad | rs63750068 |
| Varsome | rs63750068 |
| LitVar | rs63750068 |
| Map | rs63750068 |
| PheGenI | rs63750068 |
| Biobank | rs63750068 |
| 1000 genomes | rs63750068 |
| hgdp | rs63750068 |
| ensembl | rs63750068 |
| geneview | rs63750068 |
| scholar | rs63750068 |
| rs63750068 | |
| pharmgkb | rs63750068 |
| gwascentral | rs63750068 |
| openSNP | rs63750068 |
| 23andMe | rs63750068 |
| SNPshot | rs63750068 |
| SNPdbe | rs63750068 |
| MSV3d | rs63750068 |
| GWAS Ctlg | rs63750068 |
| Max Magnitude | 6 |
aka c.1444dupA as well as c.1444delA; both are considered in ClinVar to be pathogenic for Lynch syndrome
| ClinVar | |
|---|---|
| Risk | rs63750068(-;-) |
| Alt | rs63750068(-;-) |
| Reference | Rs63750068(A;A) |
| Significance | Pathogenic |
| Disease | Lynch syndrome |
| Variation | info |
| Gene | MSH2 |
| CLNDBN | Lynch syndrome |
| Reversed | 0 |
| HGVS | NC_000002.11:g.47690227delA |
| CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
| CLNACC | RCV000076161.2, |
