rs1333049
rs1333049 is a common non-coding variant on chromosome 9p21.3, located within the CDKN2B-AS1 (ANRIL) long non-coding RNA locus near the cell-cycle regulators CDKN2A and CDKN2B; it does not alter a protein sequence. It acts as an expression quantitative trait locus for CDKN2B and ANRIL transcripts in vascular and adipose tissue, and the risk allele has been linked to altered vascular smooth-muscle proliferation and atherosclerotic plaque biology, with each risk-allele copy raising coronary artery disease odds. It was one of the first GWAS-discovered CAD loci and is combined here with a genome-wide CAD polygenic score plus LPA and PCSK9 variants to estimate coronary artery disease risk.
Traits rs1333049 reads
Gene
Reference databases
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