rs569058293

A SNP on chromosome 12. Its most notable genotype is C;T: for heavy smokers, ~6x increased risk for COPD

Gene
None listed
Location
Chr 12114,305,728 (GRCh38)
Highest magnitude
2.2Worth knowing
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon/normalTypical · 0.0
  2. C;TMost notableBadfor heavy smokers, ~6x increased risk for COPDWorth knowing · 2.2

On SNPedia: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 130 words

rs569058293 represents a rare variant in the intergenic region between the RBM19 and TBX5 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). Note: in the paper cited, rs569058293 is not named; it is only referred to as the SNP at position ch12:114743533 (GRCh37).

C;T

Heavy smokers with this genotype are at ~6 fold higher risk for developing chronic obstructive pulmonary disease (COPD), according to a large study of UK Biobank participants. See discussion at rs569058293.

Source and license

Adapted from rs569058293 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.