rs121964878
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 5 | Hereditary cancer-predisposing syndrome; gastric cancer related? |
| Make rs121964878(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 68822190 |
| Gene | CDH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121964878 |
| dbSNP (classic) | rs121964878 |
| ClinGen | rs121964878 |
| ebi | rs121964878 |
| HLI | rs121964878 |
| Exac | rs121964878 |
| Gnomad | rs121964878 |
| Varsome | rs121964878 |
| LitVar | rs121964878 |
| Map | rs121964878 |
| PheGenI | rs121964878 |
| Biobank | rs121964878 |
| 1000 genomes | rs121964878 |
| hgdp | rs121964878 |
| ensembl | rs121964878 |
| geneview | rs121964878 |
| scholar | rs121964878 |
| rs121964878 | |
| pharmgkb | rs121964878 |
| gwascentral | rs121964878 |
| openSNP | rs121964878 |
| 23andMe | rs121964878 |
| SNPshot | rs121964878 |
| SNPdbe | rs121964878 |
| MSV3d | rs121964878 |
| GWAS Ctlg | rs121964878 |
| Max Magnitude | 5 |
Also known as c.1901C>T, p.Ala634Val and A634V, the minor allele is considered a pathogenic rare mutation for hereditary diffuse gastric cancer in ClinVar.
| ClinVar | |
|---|---|
| Risk | rs121964878(T;T) |
| Alt | rs121964878(T;T) |
| Reference | Rs121964878(C;C) |
| Significance | Other |
| Disease | Hereditary diffuse gastric cancer |
| Variation | info |
| Gene | CDH1 |
| CLNDBN | Hereditary diffuse gastric cancer |
| Reversed | 0 |
| HGVS | NC_000016.9:g.68856093C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013031.24, |
