rs398123120
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;C) | 3 | Likely miscall by Ancestry; otherwise, familial adenomatous polyposis mutation |
| (C;C) | 0 | common in clinvar |
| Make rs398123120(-;-) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 112838399 |
| Gene | APC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398123120 |
| dbSNP (classic) | rs398123120 |
| ClinGen | rs398123120 |
| ebi | rs398123120 |
| HLI | rs398123120 |
| Exac | rs398123120 |
| Gnomad | rs398123120 |
| Varsome | rs398123120 |
| LitVar | rs398123120 |
| Map | rs398123120 |
| PheGenI | rs398123120 |
| Biobank | rs398123120 |
| 1000 genomes | rs398123120 |
| hgdp | rs398123120 |
| ensembl | rs398123120 |
| geneview | rs398123120 |
| scholar | rs398123120 |
| rs398123120 | |
| pharmgkb | rs398123120 |
| gwascentral | rs398123120 |
| openSNP | rs398123120 |
| 23andMe | rs398123120 |
| SNPshot | rs398123120 |
| SNPdbe | rs398123120 |
| MSV3d | rs398123120 |
| GWAS Ctlg | rs398123120 |
| Max Magnitude | 3 |
aka c.2805delC (p.Tyr935Terfs)
Reported by one submitter in ClinVar as pathogenic for familial adenomatous polyposis 1 (FAP1), an autosomal dominant disorder characterized by predisposition to cancer but with quite variable expressivity.
| ClinVar | |
|---|---|
| Risk | rs398123120(-;-) |
| Alt | rs398123120(-;-) |
| Reference | Rs398123120(C;C) |
| Significance | Pathogenic |
| Disease | not provided Familial adenomatous polyposis 1 |
| Variation | info |
| Gene | APC |
| CLNDBN | not provided Familial adenomatous polyposis 1 |
| Reversed | 0 |
| HGVS | NC_000005.9:g.112174096delC |
| CLNSRC | HGMD |
| CLNACC | RCV000077986.3, RCV000174983.1, |
