rs201451115
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 6 | Lynch syndrome, pathogenic mutation |
| (T;T) | 0 | common in clinvar |
| Make rs201451115(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 5986826 |
| Gene | PMS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201451115 |
| dbSNP (classic) | rs201451115 |
| ClinGen | rs201451115 |
| ebi | rs201451115 |
| HLI | rs201451115 |
| Exac | rs201451115 |
| Gnomad | rs201451115 |
| Varsome | rs201451115 |
| LitVar | rs201451115 |
| Map | rs201451115 |
| PheGenI | rs201451115 |
| Biobank | rs201451115 |
| 1000 genomes | rs201451115 |
| hgdp | rs201451115 |
| ensembl | rs201451115 |
| geneview | rs201451115 |
| scholar | rs201451115 |
| rs201451115 | |
| pharmgkb | rs201451115 |
| gwascentral | rs201451115 |
| openSNP | rs201451115 |
| 23andMe | rs201451115 |
| SNPshot | rs201451115 |
| SNPdbe | rs201451115 |
| MSV3d | rs201451115 |
| GWAS Ctlg | rs201451115 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs201451115(A;A) |
| Alt | rs201451115(A;A) |
| Reference | Rs201451115(T;T) |
| Significance | Pathogenic |
| Disease | Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
| Variation | info |
| Gene | PMS2 |
| CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000007.13:g.6026457T>A |
| CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
| CLNACC | RCV000076836.2, RCV000128864.2, RCV000414304.1, |
