rs587776705
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;GTG) | 5 | Variant of uncertain significance; possible Lynch syndrome mutation |
| (GTG;GTG) | 0 | common in clinvar |
| Make rs587776705(-;-) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 2 |
| Position | 47803633 |
| Gene | MSH6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587776705 |
| dbSNP (classic) | rs587776705 |
| ClinGen | rs587776705 |
| ebi | rs587776705 |
| HLI | rs587776705 |
| Exac | rs587776705 |
| Gnomad | rs587776705 |
| Varsome | rs587776705 |
| LitVar | rs587776705 |
| Map | rs587776705 |
| PheGenI | rs587776705 |
| Biobank | rs587776705 |
| 1000 genomes | rs587776705 |
| hgdp | rs587776705 |
| ensembl | rs587776705 |
| geneview | rs587776705 |
| scholar | rs587776705 |
| rs587776705 | |
| pharmgkb | rs587776705 |
| gwascentral | rs587776705 |
| openSNP | rs587776705 |
| 23andMe | rs587776705 |
| SNPshot | rs587776705 |
| SNPdbe | rs587776705 |
| MSV3d | rs587776705 |
| GWAS Ctlg | rs587776705 |
| Max Magnitude | 5 |
c.3386_3388delGTG (p.Cys1129_Val1130delinsLeu)
23andMe name: i5901124
| ClinVar | |
|---|---|
| Risk | rs587776705(-;-) |
| Alt | rs587776705(-;-) |
| Reference | Rs587776705(GTG;GTG) |
| Significance | Pathogenic |
| Disease | Turcot syndrome Lynch syndrome |
| Variation | info |
| Gene | MSH6 |
| CLNDBN | Turcot syndrome Lynch syndrome |
| Reversed | 0 |
| HGVS | NC_000002.11:g.48030772_48030774delGTG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000009496.5, RCV000074846.2, |
