rs121913224
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (AAAAG;AAAAG) | 0 | common in clinvar |
| (AAAGA;AAAGA) | 0 | common in clinvar |
| Make rs121913224(-;-) |
| Make rs121913224(-;AAAGA) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 112839521 |
| Gene | APC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121913224 |
| dbSNP (classic) | rs121913224 |
| ClinGen | rs121913224 |
| ebi | rs121913224 |
| HLI | rs121913224 |
| Exac | rs121913224 |
| Gnomad | rs121913224 |
| Varsome | rs121913224 |
| LitVar | rs121913224 |
| Map | rs121913224 |
| PheGenI | rs121913224 |
| Biobank | rs121913224 |
| 1000 genomes | rs121913224 |
| hgdp | rs121913224 |
| ensembl | rs121913224 |
| geneview | rs121913224 |
| scholar | rs121913224 |
| rs121913224 | |
| pharmgkb | rs121913224 |
| gwascentral | rs121913224 |
| openSNP | rs121913224 |
| 23andMe | rs121913224 |
| SNPshot | rs121913224 |
| SNPdbe | rs121913224 |
| MSV3d | rs121913224 |
| GWAS Ctlg | rs121913224 |
| Merged from | Rs80338757 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121913224(-;-) Rs121913224(AAAAG;AAAAG) |
| Alt | rs121913224(-;-) Rs121913224(AAAAG;AAAAG) |
| Reference | Rs121913224(AAAGA;AAAGA) |
| Significance | Pathogenic |
| Disease | Familial adenomatous polyposis 1 Gardner syndrome Adenomatous polyposis coli with congenital cholesteatoma Hereditary cancer-predisposing syndrome not provided |
| Variation | info |
| Gene | APC |
| CLNDBN | Familial adenomatous polyposis 1 Gardner syndrome Adenomatous polyposis coli with congenital cholesteatoma Hereditary cancer-predisposing syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000005.9:g.112175218_112175222delAAAGA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000000856.6, RCV000000857.2, RCV000000858.2, RCV000128941.4, RCV000202014.1, |
[PMID 8162051] Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli.
[PMID 8281160] Identification of somatic APC gene mutations in periampullary adenomas in a patient with familial adenomatous polyposis (FAP).
[PMID 8929955
] Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study.
[PMID 9890479] Congenital cholesteatoma in a child carrying a gene mutation for adenomatous polyposis coli.
