rs63750196
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;T) | 6 | Lynch syndrome, pathogenic mutation |
| (T;T) | 0 | common in clinvar |
| Make rs63750196(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 47803429 |
| Gene | MSH6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750196 |
| dbSNP (classic) | rs63750196 |
| ClinGen | rs63750196 |
| ebi | rs63750196 |
| HLI | rs63750196 |
| Exac | rs63750196 |
| Gnomad | rs63750196 |
| Varsome | rs63750196 |
| LitVar | rs63750196 |
| Map | rs63750196 |
| PheGenI | rs63750196 |
| Biobank | rs63750196 |
| 1000 genomes | rs63750196 |
| hgdp | rs63750196 |
| ensembl | rs63750196 |
| geneview | rs63750196 |
| scholar | rs63750196 |
| rs63750196 | |
| pharmgkb | rs63750196 |
| gwascentral | rs63750196 |
| openSNP | rs63750196 |
| 23andMe | rs63750196 |
| SNPshot | rs63750196 |
| SNPdbe | rs63750196 |
| MSV3d | rs63750196 |
| GWAS Ctlg | rs63750196 |
| Max Magnitude | 6 |
c.3182delT (p.Leu1061Argfs)
23andMe name: i5900926
| ClinVar | |
|---|---|
| Risk | rs63750196(-;-) |
| Alt | rs63750196(-;-) |
| Reference | Rs63750196(T;T) |
| Significance | Pathogenic |
| Disease | Lynch syndrome |
| Variation | info |
| Gene | MSH6 |
| CLNDBN | Lynch syndrome |
| Reversed | 0 |
| HGVS | NC_000002.11:g.48030568delT |
| CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
| CLNACC | RCV000074814.2, |
