rs587783047
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 rs587783047(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 16 |
| Position | 68801693 |
| Gene | CDH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587783047 |
| dbSNP (classic) | rs587783047 |
| ClinGen | rs587783047 |
| ebi | rs587783047 |
| HLI | rs587783047 |
| Exac | rs587783047 |
| Gnomad | rs587783047 |
| Varsome | rs587783047 |
| LitVar | rs587783047 |
| Map | rs587783047 |
| PheGenI | rs587783047 |
| Biobank | rs587783047 |
| 1000 genomes | rs587783047 |
| hgdp | rs587783047 |
| ensembl | rs587783047 |
| geneview | rs587783047 |
| scholar | rs587783047 |
| rs587783047 | |
| pharmgkb | rs587783047 |
| gwascentral | rs587783047 |
| openSNP | rs587783047 |
| 23andMe | rs587783047 |
| SNPshot | rs587783047 |
| SNPdbe | rs587783047 |
| MSV3d | rs587783047 |
| GWAS Ctlg | rs587783047 |
| Max Magnitude | 6.7 |
Also known as c.187C>T, p.Arg63Ter or R63X, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
| ClinVar | |
|---|---|
| Risk | rs587783047(T;T) |
| Alt | rs587783047(T;T) |
| Reference | Rs587783047(C;C) |
| Significance | Pathogenic |
| Disease | Hereditary diffuse gastric cancer |
| Variation | info |
| Gene | CDH1 |
| CLNDBN | Hereditary diffuse gastric cancer |
| Reversed | 0 |
| HGVS | NC_000016.9:g.68835596C>T |
| CLNSRC | |
| CLNACC | RCV000144590.2, |
