rs1421
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs1421(A;G) |
| Make rs1421(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 47386731 |
| Gene | EPCAM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1421 |
| dbSNP (classic) | rs1421 |
| ClinGen | rs1421 |
| ebi | rs1421 |
| HLI | rs1421 |
| Exac | rs1421 |
| Gnomad | rs1421 |
| Varsome | rs1421 |
| LitVar | rs1421 |
| Map | rs1421 |
| PheGenI | rs1421 |
| Biobank | rs1421 |
| 1000 genomes | rs1421 |
| hgdp | rs1421 |
| ensembl | rs1421 |
| geneview | rs1421 |
| scholar | rs1421 |
| rs1421 | |
| pharmgkb | rs1421 |
| gwascentral | rs1421 |
| openSNP | rs1421 |
| 23andMe | rs1421 |
| SNPshot | rs1421 |
| SNPdbe | rs1421 |
| MSV3d | rs1421 |
| GWAS Ctlg | rs1421 |
| GMAF | 0.1221 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 20683652] A non-synonymous polymorphism Thr115Met in the EpCAM gene is associated with an increased risk of breast cancer in Chinese population
[PMID 22322561] Functional polymorphism in the EpCAM gene is associated with occurrence and advanced disease status of cervical cancer in Chinese population.
[PMID 24304228
] Polymorphisms of EpCAM gene and prognosis for non-small-cell lung cancer in Han Chinese
[PMID 26115884] Single nucleotide polymorphisms of the EpCAM-coding gene TACSTD1 in patients with ovarian cancer and their potential translational aspects
| ClinVar | |
|---|---|
| Risk | rs1421(G;G) |
| Alt | rs1421(G;G) |
| Reference | Rs1421(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | Lynch syndrome |
| Variation | info |
| Gene | EPCAM |
| CLNDBN | Lynch syndrome |
| Reversed | 1 |
| HGVS | NC_000002.11:g.47613870T>C |
| CLNSRC | |
| CLNACC | RCV000386327.1, |
