rs587780113
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 6.7 | CDH1-based gastric cancer risk |
| (C;G) | 6.7 | CDH1-based gastric cancer risk |
| (G;G) | 0 | common in clinvar |
| (G;T) | 6.7 | CDH1-based gastric cancer risk |
| Make rs587780113(A;A) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 16 |
| Position | 68815760 |
| Gene | CDH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587780113 |
| dbSNP (classic) | rs587780113 |
| ClinGen | rs587780113 |
| ebi | rs587780113 |
| HLI | rs587780113 |
| Exac | rs587780113 |
| Gnomad | rs587780113 |
| Varsome | rs587780113 |
| LitVar | rs587780113 |
| Map | rs587780113 |
| PheGenI | rs587780113 |
| Biobank | rs587780113 |
| 1000 genomes | rs587780113 |
| hgdp | rs587780113 |
| ensembl | rs587780113 |
| geneview | rs587780113 |
| scholar | rs587780113 |
| rs587780113 | |
| pharmgkb | rs587780113 |
| gwascentral | rs587780113 |
| openSNP | rs587780113 |
| 23andMe | rs587780113 |
| SNPshot | rs587780113 |
| SNPdbe | rs587780113 |
| MSV3d | rs587780113 |
| GWAS Ctlg | rs587780113 |
| Max Magnitude | 6.7 |
Also known as c.1565+1G>A, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
| ClinVar | |
|---|---|
| Risk | rs587780113(A;A) rs587780113(C;C) rs587780113(T;T) |
| Alt | rs587780113(A;A) rs587780113(C;C) rs587780113(T;T) |
| Reference | Rs587780113(G;G) |
| Significance | Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome Hereditary diffuse gastric cancer not provided |
| Variation | info |
| Gene | CDH1 |
| CLNDBN | Hereditary cancer-predisposing syndrome Hereditary diffuse gastric cancer not provided |
| Reversed | 0 |
| HGVS | NC_000016.9:g.68849663G>A; NC_000016.9:g.68849663G>C; NC_000016.9:g.68849663G>T |
| CLNSRC | |
| CLNACC | RCV000115843.5, RCV000123238.2, RCV000212372.2, RCV000465857.1, RCV000129610.2, |
