rs2292779

This is a intron variant variant in the AGO2 gene.

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ClinVar annotation

Benign★★★☆
4 submitters2 publications

AGO2-related disorder

View on ClinVar →
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Research that mentions this SNP (2)

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Potentially functional genetic variants in microRNA processing genes and risk of HBV‐related hepatocellular carcinoma
Meta-analysisN=8,614Li Liu et al.(2013)· Molecular Carcinogenesis

This systematic review and meta-analysis examined associations between SNPs in miRNA biosynthesis genes DROSHA and DGCR8 and cancer risk across 10 case-control studies (4,265 cases, 4,349 controls). The DGCR8 rs417309 SNP showed significant association with elevated overall cancer risk across all genetic models. DROSHA rs10719 and rs6877842 SNPs were associated with cancer risk in specific populations (Asian populations and laryngeal cancer, respectively).

Traits studied:Bladder cancerBreast cancerCancer susceptibilityCervical cancerColorectal cancerEsophageal cancerGastric cancerHead and neck cancerHepatocellular carcinomaLaryngeal cancerLung cancerOral cancerProstate cancerRenal cell carcinomaThyroid cancer
PubMedDOIMetascience Observatory
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Association of a common AGO1 variant with lung cancer risk: A two‐stage case–control study
Meta-analysisN=8,614Jong‐Sik Kim et al.(2010)· Molecular Carcinogenesis

Meta-analysis of 10 case-control studies (4,265 cancer cases, 4,349 controls) examining seven SNPs in miRNA biosynthesis genes DROSHA and DGCR8 showed that DGCR8 rs417309 (G/A) was significantly associated with increased cancer risk (OR=3.169, 95%CI=1.63-6.146 for AA vs GG; OR=3.026, 95%CI=1.574-5.817 for recessive model), while DROSHA rs10719 and rs6877842 showed associations in Asian and laryngeal cancer subgroups.

Traits studied:Bladder cancerBreast cancerCancer susceptibilityColorectal cancerGastric cancerHead and neck cancerHepatocellular carcinomaLaryngeal cancerLung cancerOvarian cancerProstate cancerRenal cell carcinoma
PubMedDOIMetascience Observatory

About AGO2

This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

View all AGO2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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