rs143277125
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6 | Lynch syndrome, pathogenic mutation |
| (G;G) | 0 | common in clinvar |
| Make rs143277125(G;T) |
| Make rs143277125(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 5992012 |
| Gene | PMS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs143277125 |
| dbSNP (classic) | rs143277125 |
| ClinGen | rs143277125 |
| ebi | rs143277125 |
| HLI | rs143277125 |
| Exac | rs143277125 |
| Gnomad | rs143277125 |
| Varsome | rs143277125 |
| LitVar | rs143277125 |
| Map | rs143277125 |
| PheGenI | rs143277125 |
| Biobank | rs143277125 |
| 1000 genomes | rs143277125 |
| hgdp | rs143277125 |
| ensembl | rs143277125 |
| geneview | rs143277125 |
| scholar | rs143277125 |
| rs143277125 | |
| pharmgkb | rs143277125 |
| gwascentral | rs143277125 |
| openSNP | rs143277125 |
| 23andMe | rs143277125 |
| SNPshot | rs143277125 |
| SNPdbe | rs143277125 |
| MSV3d | rs143277125 |
| GWAS Ctlg | rs143277125 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs143277125(A;A) rs143277125(T;T) |
| Alt | rs143277125(A;A) rs143277125(T;T) |
| Reference | Rs143277125(G;G) |
| Significance | Pathogenic |
| Disease | Lynch syndrome not specified |
| Variation | info |
| Gene | PMS2 |
| CLNDBN | Lynch syndrome not specified |
| Reversed | 0 |
| HGVS | NC_000007.13:g.6031643G>A; NC_000007.13:g.6031643G>T |
| CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
| CLNACC | RCV000076902.2, RCV000483849.1, |
