rs63750347
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6 | Lynch syndrome, pathogenic mutation |
| Make rs63750347(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 47412522 |
| Gene | MSH2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750347 |
| dbSNP (classic) | rs63750347 |
| ClinGen | rs63750347 |
| ebi | rs63750347 |
| HLI | rs63750347 |
| Exac | rs63750347 |
| Gnomad | rs63750347 |
| Varsome | rs63750347 |
| LitVar | rs63750347 |
| Map | rs63750347 |
| PheGenI | rs63750347 |
| Biobank | rs63750347 |
| 1000 genomes | rs63750347 |
| hgdp | rs63750347 |
| ensembl | rs63750347 |
| geneview | rs63750347 |
| scholar | rs63750347 |
| rs63750347 | |
| pharmgkb | rs63750347 |
| gwascentral | rs63750347 |
| openSNP | rs63750347 |
| 23andMe | rs63750347 |
| SNPshot | rs63750347 |
| SNPdbe | rs63750347 |
| MSV3d | rs63750347 |
| GWAS Ctlg | rs63750347 |
| Max Magnitude | 6 |
rs63750347, also known as c.754C>T, p.Gln252Ter and Q252X, is a very rare mutation in the MSH2 gene on chromosome 2.
Acting in an autosomal dominant manner, the rs63750347(T) allele is considered pathogenic by multiple sources in ClinVar for Lynch syndrome, a disorder characterized by increased risk for colon cancer and other cancers.
Although on their v3 chip under it's real (public) name, on their v4 chip, rs63750347 has been renamed by 23andMe to a private name, i5900960.
| ClinVar | |
|---|---|
| Risk | rs63750347(G;G) rs63750347(T;T) |
| Alt | rs63750347(G;G) rs63750347(T;T) |
| Reference | Rs63750347(C;C) |
| Significance | Pathogenic |
| Disease | Lynch syndrome Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | MSH2 |
| CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000002.11:g.47639661C>T |
| CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
| CLNACC | RCV000076700.2, RCV000491026.1, |
