rs7865618
This is a intron variant variant in the CDKN2B-AS1 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶Research that mentions this SNP (1)
▶Sequence variants on chromosome 9p21.3 confer risk for atherosclerotic strokeAssociationN=8,681Andreas Gschwendtner et al.(2009)· Annals of Neurology
This study identified seven SNPs on chromosome 9p21.3 associated with atherosclerotic stroke risk in 4,376 cases and 4,305 controls from Europe and North America. The lead SNP rs1537378 had a pooled odds ratio of 1.21 (95% CI=1.07-1.37, p=0.002) with a population attributable risk of 20.1% for atherosclerotic stroke. The associated variants are located in a region spanning over 100 kb that overlaps genes encoding ANRIL (antisense noncoding RNA), MTAP, CDKN2A, and CDKN2B, implicating this locus in vascular disease pathogenesis.
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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