|| for heavy smokers, ~6x increased risk for COPD
represents a rare variant in the intergenic region between the RBM19
genes on chromosome 12.
rs569058293 was the variant leading to the most dramatic risk increase for COPD in the large GWA study of heavy smokers in the UK Biobank project. The odds ratios for the minor allele for association with COPD was 6.44 (CI: 2.9-14.4, p=5.4x10e-6), and the association for reduced forced expiratory volume (FEV1) in these heavy smokers was also strong (p=1.3x10e-6).10.1016/S2213-2600(15)00283-0
Note: in the paper cited, rs569058293 is not named; it is only referred to as the SNP at position ch12:114743533 (GRCh37).