rs2229992
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;T) | 6.5 | Familial Adenomatous Polyposis |
| (T;T) | 0 | common in clinvar |
| Make rs2229992(C;C) |
| Make rs2229992(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 112827157 |
| Gene | APC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2229992 |
| dbSNP (classic) | rs2229992 |
| ClinGen | rs2229992 |
| ebi | rs2229992 |
| HLI | rs2229992 |
| Exac | rs2229992 |
| Gnomad | rs2229992 |
| Varsome | rs2229992 |
| LitVar | rs2229992 |
| Map | rs2229992 |
| PheGenI | rs2229992 |
| Biobank | rs2229992 |
| 1000 genomes | rs2229992 |
| hgdp | rs2229992 |
| ensembl | rs2229992 |
| geneview | rs2229992 |
| scholar | rs2229992 |
| rs2229992 | |
| pharmgkb | rs2229992 |
| gwascentral | rs2229992 |
| openSNP | rs2229992 |
| 23andMe | rs2229992 |
| SNPshot | rs2229992 |
| SNPdbe | rs2229992 |
| MSV3d | rs2229992 |
| GWAS Ctlg | rs2229992 |
| GMAF | 0.4674 |
| Max Magnitude | 6.5 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 21279955] Association of APC and MCC polymorphisms with increased breast cancer risk in an Indian population
| ClinVar | |
|---|---|
| Risk | rs2229992(C;C) |
| Alt | rs2229992(C;C) |
| Reference | Rs2229992(T;T) |
| Significance | Other |
| Disease | not specified Familial colorectal cancer Hereditary cancer-predisposing syndrome APC-Associated Polyposis Disorders |
| Variation | info |
| Gene | APC |
| CLNDBN | not specified Familial colorectal cancer Hereditary cancer-predisposing syndrome APC-Associated Polyposis Disorders |
| Reversed | 0 |
| HGVS | NC_000005.9:g.112162854T>C |
| CLNSRC | Ambry Genetics ClinVar Emory University |
| CLNACC | RCV000035064.9, RCV000074147.1, RCV000131423.2, RCV000275522.1, |
[PMID 15768050] The tumor suppressor adenomatous polyposis coli gene is associated with susceptibility to schizophrenia.
[PMID 16569251
] Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.
[PMID 17221838] Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD).
[PMID 17267408] Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.
[PMID 18708403] Association of genetic variation in genes implicated in the beta-catenin destruction complex with risk of breast cancer.
[PMID 18849522] Nested Patch PCR enables highly multiplexed mutation discovery in candidate genes.
[PMID 20333795] APC gene mutations in Chinese familial adenomatous polyposis patients.
