rs113517055
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6 | Lynch syndrome |
| (C;C) | 0 | common in clinvar |
| Make rs113517055(A;A) |
| Make rs113517055(A;C) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 7 |
| Position | 6003689 |
| Gene | PMS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113517055 |
| dbSNP (classic) | rs113517055 |
| ClinGen | rs113517055 |
| ebi | rs113517055 |
| HLI | rs113517055 |
| Exac | rs113517055 |
| Gnomad | rs113517055 |
| Varsome | rs113517055 |
| LitVar | rs113517055 |
| Map | rs113517055 |
| PheGenI | rs113517055 |
| Biobank | rs113517055 |
| 1000 genomes | rs113517055 |
| hgdp | rs113517055 |
| ensembl | rs113517055 |
| geneview | rs113517055 |
| scholar | rs113517055 |
| rs113517055 | |
| pharmgkb | rs113517055 |
| gwascentral | rs113517055 |
| openSNP | rs113517055 |
| 23andMe | rs113517055 |
| SNPshot | rs113517055 |
| SNPdbe | rs113517055 |
| MSV3d | rs113517055 |
| GWAS Ctlg | rs113517055 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs113517055(A;A) rs113517055(T;T) |
| Alt | rs113517055(A;A) rs113517055(T;T) |
| Reference | Rs113517055(C;C) |
| Significance | Probable-Pathogenic |
| Disease | not provided Lynch syndrome |
| Variation | info |
| Gene | PMS2 |
| CLNDBN | not provided Lynch syndrome |
| Reversed | 0 |
| HGVS | NC_000007.13:g.6043320C>T |
| CLNSRC | |
| CLNACC | RCV000217968.1, RCV000476751.1, |
