rs863224505
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;T) | 5 | Hereditary cancer-predisposing syndrome; gastric cancer related? |
| (T;T) | 0 | common in clinvar |
| Make rs863224505(-;-) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 16 |
| Position | 68812189 |
| Gene | CDH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs863224505 |
| dbSNP (classic) | rs863224505 |
| ClinGen | rs863224505 |
| ebi | rs863224505 |
| HLI | rs863224505 |
| Exac | rs863224505 |
| Gnomad | rs863224505 |
| Varsome | rs863224505 |
| LitVar | rs863224505 |
| Map | rs863224505 |
| PheGenI | rs863224505 |
| Biobank | rs863224505 |
| 1000 genomes | rs863224505 |
| hgdp | rs863224505 |
| ensembl | rs863224505 |
| geneview | rs863224505 |
| scholar | rs863224505 |
| rs863224505 | |
| pharmgkb | rs863224505 |
| gwascentral | rs863224505 |
| openSNP | rs863224505 |
| 23andMe | rs863224505 |
| SNPshot | rs863224505 |
| SNPdbe | rs863224505 |
| MSV3d | rs863224505 |
| GWAS Ctlg | rs863224505 |
| Merged from | Rs869312764 |
| Max Magnitude | 5 |
Also known as c.1064delT, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
| ClinVar | |
|---|---|
| Risk | rs863224505(-;-) |
| Alt | rs863224505(-;-) |
| Reference | Rs863224505(T;T) |
| Significance | Pathogenic |
| Disease | Hereditary diffuse gastric cancer Hereditary cancer-predisposing syndrome |
| Variation | info |
| Gene | CDH1 |
| CLNDBN | Hereditary diffuse gastric cancer Hereditary cancer-predisposing syndrome |
| Reversed | 0 |
| HGVS | NC_000016.9:g.68846093delT |
| CLNSRC | |
| CLNACC | RCV000196464.1, RCV000210107.1, |
