rs63750160
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;G) | 6 | Lynch syndrome, pathogenic mutation |
| (-;GG) | 6 | Lynch syndrome |
| (G;G) | 0 | common in clinvar |
| Make rs63750160(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 47403378 |
| Gene | MSH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750160 |
| dbSNP (classic) | rs63750160 |
| ClinGen | rs63750160 |
| ebi | rs63750160 |
| HLI | rs63750160 |
| Exac | rs63750160 |
| Gnomad | rs63750160 |
| Varsome | rs63750160 |
| LitVar | rs63750160 |
| Map | rs63750160 |
| PheGenI | rs63750160 |
| Biobank | rs63750160 |
| 1000 genomes | rs63750160 |
| hgdp | rs63750160 |
| ensembl | rs63750160 |
| geneview | rs63750160 |
| scholar | rs63750160 |
| rs63750160 | |
| pharmgkb | rs63750160 |
| gwascentral | rs63750160 |
| openSNP | rs63750160 |
| 23andMe | rs63750160 |
| SNPshot | rs63750160 |
| SNPdbe | rs63750160 |
| MSV3d | rs63750160 |
| GWAS Ctlg | rs63750160 |
| Max Magnitude | 6 |
at least three mutations are represented by rs63750160: c.187dupG, c.186_187dupGG, and c.187delG; all are considered in ClinVar to be pathogenic for Lynch syndrome
| ClinVar | |
|---|---|
| Risk | rs63750160(-;-) |
| Alt | rs63750160(-;-) |
| Reference | Rs63750160(G;G) |
| Significance | Pathogenic |
| Disease | Lynch syndrome not provided Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | MSH2 |
| CLNDBN | Lynch syndrome not provided Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000002.11:g.47630517delG |
| CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
| CLNACC | RCV000076310.2, RCV000202123.2, RCV000491017.1, |
