rs878854485
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6 | Lynch syndrome mutation |
| Make rs878854485(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 2 |
| Position | 47373519 |
| Gene | EPCAM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs878854485 |
| dbSNP (classic) | rs878854485 |
| ClinGen | rs878854485 |
| ebi | rs878854485 |
| HLI | rs878854485 |
| Exac | rs878854485 |
| Gnomad | rs878854485 |
| Varsome | rs878854485 |
| LitVar | rs878854485 |
| Map | rs878854485 |
| PheGenI | rs878854485 |
| Biobank | rs878854485 |
| 1000 genomes | rs878854485 |
| hgdp | rs878854485 |
| ensembl | rs878854485 |
| geneview | rs878854485 |
| scholar | rs878854485 |
| rs878854485 | |
| pharmgkb | rs878854485 |
| gwascentral | rs878854485 |
| openSNP | rs878854485 |
| 23andMe | rs878854485 |
| SNPshot | rs878854485 |
| SNPdbe | rs878854485 |
| MSV3d | rs878854485 |
| GWAS Ctlg | rs878854485 |
| Max Magnitude | 6 |
| ClinVar | |
|---|---|
| Risk | rs878854485(T;T) |
| Alt | rs878854485(T;T) |
| Reference | Rs878854485(C;C) |
| Significance | Pathogenic |
| Disease | Lynch syndrome |
| Variation | info |
| Gene | EPCAM |
| CLNDBN | Lynch syndrome |
| Reversed | 0 |
| HGVS | NC_000002.11:g.47600658C>T |
| CLNSRC | |
| CLNACC | RCV000226008.1, |
