rs121964875
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5 | Likely miscall, at least by Ancestry and possibly by 23andMe; otherwise, Hereditary cancer-predisposing syndrome; gastric cancer related |
| (G;G) | 0 | common in clinvar |
| Make rs121964875(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 68738307 |
| Gene | CDH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121964875 |
| dbSNP (classic) | rs121964875 |
| ClinGen | rs121964875 |
| ebi | rs121964875 |
| HLI | rs121964875 |
| Exac | rs121964875 |
| Gnomad | rs121964875 |
| Varsome | rs121964875 |
| LitVar | rs121964875 |
| Map | rs121964875 |
| PheGenI | rs121964875 |
| Biobank | rs121964875 |
| 1000 genomes | rs121964875 |
| hgdp | rs121964875 |
| ensembl | rs121964875 |
| geneview | rs121964875 |
| scholar | rs121964875 |
| rs121964875 | |
| pharmgkb | rs121964875 |
| gwascentral | rs121964875 |
| openSNP | rs121964875 |
| 23andMe | rs121964875 |
| SNPshot | rs121964875 |
| SNPdbe | rs121964875 |
| MSV3d | rs121964875 |
| GWAS Ctlg | rs121964875 |
| Max Magnitude | 5 |
Also known as c.59G>A, p.Trp20Ter or W20X, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
The minor allele appears to be quite rare in DTC data. The only case which we've so far heard about was from the Ancestry v2 platform, and clinical testing showed it was a miscall.
23andMe name: i5004971
| ClinVar | |
|---|---|
| Risk | rs121964875(A;A) |
| Alt | rs121964875(A;A) |
| Reference | Rs121964875(G;G) |
| Significance | Pathogenic |
| Disease | Hereditary diffuse gastric cancer |
| Variation | info |
| Gene | CDH1 |
| CLNDBN | Hereditary diffuse gastric cancer |
| Reversed | 0 |
| HGVS | NC_000016.9:g.68772210G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013026.16, |
