rs730881653
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (-;T) | 6.7 | CDH1-based gastric cancer risk |
| Make rs730881653(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 16 |
| Position | 68823441 |
| Gene | CDH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs730881653 |
| dbSNP (classic) | rs730881653 |
| ClinGen | rs730881653 |
| ebi | rs730881653 |
| HLI | rs730881653 |
| Exac | rs730881653 |
| Gnomad | rs730881653 |
| Varsome | rs730881653 |
| LitVar | rs730881653 |
| Map | rs730881653 |
| PheGenI | rs730881653 |
| Biobank | rs730881653 |
| 1000 genomes | rs730881653 |
| hgdp | rs730881653 |
| ensembl | rs730881653 |
| geneview | rs730881653 |
| scholar | rs730881653 |
| rs730881653 | |
| pharmgkb | rs730881653 |
| gwascentral | rs730881653 |
| openSNP | rs730881653 |
| 23andMe | rs730881653 |
| SNPshot | rs730881653 |
| SNPdbe | rs730881653 |
| MSV3d | rs730881653 |
| GWAS Ctlg | rs730881653 |
| Max Magnitude | 6.7 |
Also known as c.1979dupT, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
| ClinVar | |
|---|---|
| Risk | rs730881653(T;T) |
| Alt | rs730881653(T;T) |
| Reference | Rs730881653(-;-) |
| Significance | Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | CDH1 |
| CLNDBN | Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000016.9:g.68857344dupT |
| CLNSRC | |
| CLNACC | RCV000160368.3, |
