rs486907
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2 | 2x increased prostate cancer risk |
| (A;G) | 1.5 | 1.5x increased prostate cancer risk |
| (G;G) | 1 | Normal prostate cancer risk |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 182585422 |
| Gene | RNASEL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs486907 |
| dbSNP (classic) | rs486907 |
| ClinGen | rs486907 |
| ebi | rs486907 |
| HLI | rs486907 |
| Exac | rs486907 |
| Gnomad | rs486907 |
| Varsome | rs486907 |
| LitVar | rs486907 |
| Map | rs486907 |
| PheGenI | rs486907 |
| Biobank | rs486907 |
| 1000 genomes | rs486907 |
| hgdp | rs486907 |
| ensembl | rs486907 |
| geneview | rs486907 |
| scholar | rs486907 |
| rs486907 | |
| pharmgkb | rs486907 |
| gwascentral | rs486907 |
| openSNP | rs486907 |
| 23andMe | rs486907 |
| SNPshot | rs486907 |
| SNPdbe | rs486907 |
| MSV3d | rs486907 |
| GWAS Ctlg | rs486907 |
| GMAF | 0.2447 |
| Max Magnitude | 2 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs486907 is a SNP in the RNase L RNASEL gene that has been associated with cancer risk. The basic rationale behind most of these studies is that RNase L is responsible for deactivating RNA-based viruses that are associated with certain cancers, and therefore SNPs that lead to lower RNase L activity may lead to increased cancer risk. This SNP is also known as R462Q or Arg462Gln.
In a study of prostate cancer patients, rs486907(A;G) heterozygotes were calculated to be at 1.5x increased risk, and rs486907(A;A) homozygotes 2x risk (p=0.007).[PMID 12415269]
This SNP was also associated with hereditary-prostate-cancer (HPC) predisposition with an odds ratio of 1.97 (p=0.07) in a study of 116 affected Finnish families.[PMID 11941539
]
See also:
[PMID 20564318] Contribution of HPC1 (RNASEL) and HPCX variants to prostate cancer in a founder population
[PMID 21221811] RNASEL -1385G/A polymorphism and cancer risk: a meta-analysis based on 21 case-control studies
| ClinVar | |
|---|---|
| Risk | Rs486907(A;A) |
| Alt | Rs486907(A;A) |
| Reference | Rs486907(G;G) |
| Significance | Other |
| Disease | Prostate cancer |
| Variation | info |
| Gene | RNASEL |
| CLNDBN | Prostate cancer, susceptibility to |
| Reversed | 1 |
| HGVS | NC_000001.10:g.182554557C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013880.3, |
[PMID 18566991] Joint effects of inflammation and androgen metabolism on prostate cancer severity.
[PMID 18575592] Germline mutation in RNASEL predicts increased risk of head and neck, uterine cervix and breast cancer.
[PMID 18676870] Variants in inflammation genes and the risk of biliary tract cancers and stones: a population-based study in China.
[PMID 19379518] Development of a fingerprinting panel using medically relevant polymorphisms.
[PMID 19567509] Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.
[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
[PMID 27318894] Association between RNASEL, MSR1, and ELAC2 single nucleotide polymorphisms and gene expression in prostate cancer risk.
