rs2891168

This is a intron variant variant in the CDKN2B-AS1 gene.

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GWAS Catalog Trait Associations (7)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

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Research that mentions this SNP (1)

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A Genetic Variant in the Seed Region of miR-4513 Shows Pleiotropic Effects on Lipid and Glucose Homeostasis, Blood Pressure, and Coronary Artery Disease
ReviewMohsen Ghanbari et al.(2014)· Human Mutation

A comprehensive review of long non-coding RNA (lncRNA) genetic variants identified by GWAS studies in cardiometabolic diseases including coronary artery disease, myocardial infarction, type 2 diabetes, and blood pressure traits. The review highlights key lncRNA loci such as CDKN2B-AS1/ANRIL at 9p21.3 (rs10757278, rs2891168), MIAT (rs4977574, rs10811661), H19 (rs217727), LOC157273 (rs9987289, rs4841132), KCNQ1OT1 (rs231362), and LINC00243 (rs886424), discussing mechanisms of how genetic variants in non-coding RNA regions influence cardiovascular and metabolic disease risk.

Traits studied:AtherosclerosisBlood pressureCardiometabolic disordersCoronary artery calcificationCoronary artery diseaseFasting blood insulinHDL cholesterolLDL cholesterolMyocardial infarctionQT intervalTotal cholesterolTriglyceridesType 1 diabetesType 2 diabetes
PubMedDOIMetascience Observatory

About CDKN2B-AS1

This gene is located within the CDKN2B-CDKN2A gene cluster at chromosome 9p21. The gene product is a functional RNA molecule that interacts with polycomb repressive complex-1 (PRC1) and -2 (PRC2), leading to epigenetic silencing of other genes in this cluster. This region is a significant genetic susceptibility locus for cardiovascular disease, and has also been linked to a number of other pathologies, including several cancers, intracranial aneurysm, type-2 diabetes, periodontitis, Alzheimer's disease, endometriosis, frailty in the elderly, and glaucoma. Multiple alternatively processed transcript variants have been detected, some of which may take the form of circular RNA molecules (PMID:21151960). [provided by RefSeq, May 2014]

View all CDKN2B-AS1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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