rs587780784
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 6.7 | CDH1-based gastric cancer risk |
| Make rs587780784(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 16 |
| Position | 68811854 |
| Gene | CDH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587780784 |
| dbSNP (classic) | rs587780784 |
| ClinGen | rs587780784 |
| ebi | rs587780784 |
| HLI | rs587780784 |
| Exac | rs587780784 |
| Gnomad | rs587780784 |
| Varsome | rs587780784 |
| LitVar | rs587780784 |
| Map | rs587780784 |
| PheGenI | rs587780784 |
| Biobank | rs587780784 |
| 1000 genomes | rs587780784 |
| hgdp | rs587780784 |
| ensembl | rs587780784 |
| geneview | rs587780784 |
| scholar | rs587780784 |
| rs587780784 | |
| pharmgkb | rs587780784 |
| gwascentral | rs587780784 |
| openSNP | rs587780784 |
| 23andMe | rs587780784 |
| SNPshot | rs587780784 |
| SNPdbe | rs587780784 |
| MSV3d | rs587780784 |
| GWAS Ctlg | rs587780784 |
| Max Magnitude | 6.7 |
Also known as c.1003C>T, p.Arg335Ter or R335X, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
| ClinVar | |
|---|---|
| Risk | rs587780784(G;G) rs587780784(T;T) |
| Alt | rs587780784(G;G) rs587780784(T;T) |
| Reference | Rs587780784(C;C) |
| Significance | Pathogenic |
| Disease | Hereditary diffuse gastric cancer Hereditary cancer-predisposing syndrome not provided |
| Variation | info |
| Gene | CDH1 |
| CLNDBN | Hereditary diffuse gastric cancer Hereditary cancer-predisposing syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000016.9:g.68845757C>T |
| CLNSRC | |
| CLNACC | RCV000123230.3, RCV000130670.2, RCV000218355.1, |
