rs141577476
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 6 | Lynch syndrome |
| (G;G) | 0 | common in clinvar |
| Make rs141577476(G;T) |
| Make rs141577476(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 7 |
| Position | 6005967 |
| Gene | PMS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs141577476 |
| dbSNP (classic) | rs141577476 |
| ClinGen | rs141577476 |
| ebi | rs141577476 |
| HLI | rs141577476 |
| Exac | rs141577476 |
| Gnomad | rs141577476 |
| Varsome | rs141577476 |
| LitVar | rs141577476 |
| Map | rs141577476 |
| PheGenI | rs141577476 |
| Biobank | rs141577476 |
| 1000 genomes | rs141577476 |
| hgdp | rs141577476 |
| ensembl | rs141577476 |
| geneview | rs141577476 |
| scholar | rs141577476 |
| rs141577476 | |
| pharmgkb | rs141577476 |
| gwascentral | rs141577476 |
| openSNP | rs141577476 |
| 23andMe | rs141577476 |
| SNPshot | rs141577476 |
| SNPdbe | rs141577476 |
| MSV3d | rs141577476 |
| GWAS Ctlg | rs141577476 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs141577476(A;A) rs141577476(T;T) |
| Alt | rs141577476(A;A) rs141577476(T;T) |
| Reference | Rs141577476(G;G) |
| Significance | Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome Lynch syndrome |
| Variation | info |
| Gene | PMS2 |
| CLNDBN | Hereditary cancer-predisposing syndrome Lynch syndrome |
| Reversed | 0 |
| HGVS | NC_000007.13:g.6045598G>A; NC_000007.13:g.6045598G>T |
| CLNSRC | Ambry Genetics ClinVar |
| CLNACC | RCV000131992.2, RCV000475400.1, RCV000227509.2, |
