rs876658932
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 5 | Hereditary diffuse gastric cancer |
| Make rs876658932(G;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 16 |
| Position | 68801726 |
| Gene | CDH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs876658932 |
| dbSNP (classic) | rs876658932 |
| ClinGen | rs876658932 |
| ebi | rs876658932 |
| HLI | rs876658932 |
| Exac | rs876658932 |
| Gnomad | rs876658932 |
| Varsome | rs876658932 |
| LitVar | rs876658932 |
| Map | rs876658932 |
| PheGenI | rs876658932 |
| Biobank | rs876658932 |
| 1000 genomes | rs876658932 |
| hgdp | rs876658932 |
| ensembl | rs876658932 |
| geneview | rs876658932 |
| scholar | rs876658932 |
| rs876658932 | |
| pharmgkb | rs876658932 |
| gwascentral | rs876658932 |
| openSNP | rs876658932 |
| 23andMe | rs876658932 |
| SNPshot | rs876658932 |
| SNPdbe | rs876658932 |
| MSV3d | rs876658932 |
| GWAS Ctlg | rs876658932 |
| Max Magnitude | 5 |
Also known as c.220C>T, p.Arg74Ter or R74X, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
| ClinVar | |
|---|---|
| Risk | rs876658932(G;G) rs876658932(T;T) |
| Alt | rs876658932(G;G) rs876658932(T;T) |
| Reference | Rs876658932(C;C) |
| Significance | Pathogenic |
| Disease | Hereditary cancer-predisposing syndrome Hereditary diffuse gastric cancer |
| Variation | info |
| Gene | CDH1 |
| CLNDBN | Hereditary cancer-predisposing syndrome Hereditary diffuse gastric cancer |
| Reversed | 0 |
| HGVS | NC_000016.9:g.68835629C>G; NC_000016.9:g.68835629C>T |
| CLNSRC | |
| CLNACC | RCV000218864.1, RCV000227616.2, |
