rs2151280
This variant is located in the CDKN2B-AS1 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶Research that mentions this SNP (1)
▶Genome‐wide scan of long noncoding RNA single nucleotide polymorphisms and pancreatic cancer susceptibilityAssociationN=19,862Chiara Corradi et al.(2021)· International Journal of Cancer
Genome-wide scan of long noncoding RNA (lncRNA) variants in 19,862 individuals identified five novel lncSNP associations with pancreatic ductal adenocarcinoma (PDAC) risk. The strongest association was rs7046076 (C allele, OR=1.13, 95% CI=1.09-1.18, P=9.73×10⁻⁹) in the NONHSAG053086.2/lnc-SMC2-1 lncRNA, which disrupts binding to hsa-mir-1256, regulating genes including CDKN2B and DAAM1 involved in cell cycle control and cell migration.
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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