rs31489(C;C)

Increased risk for lung cancer and emphysema

Magnitude
2.0Worth knowing
Repute
Bad
Frequency
49%Average of 11 populations
On SNPedia
rs31489(C;C)
Gene
CLPTM1L

Frequency

Share of people with C;C in each HapMap population.

  • Japanese (Tokyo)76%
  • Han Chinese (Beijing)70%
  • Chinese (Denver)70%
  • Gujarati Indian68%
  • Mexican ancestry (Los Angeles)60%
  • Maasai (Kenya)39%
  • European ancestry (Utah)38%
  • Luhya (Kenya)35%
  • African ancestry (Southwest US)32%
  • Tuscan31%
  • Yoruba (Nigeria)19%

Other genotypes of rs31489

  1. A;ANot ratedReduced lung cancer risk?Minor · 1.111% of people
  2. A;CMost notableGood1.75-fold reduced risk of developing lung cancerWorth knowing · 2.040% of people

All about rs31489

Notes

From SNPedia

The rs31489 C-allele correlated with reduced forced expiratory volume in 1 s (p=0.006). Homozygous carriers of the rs31489 C-allele exhibited increased susceptibility to bronchial obstruction (OR 1.82, 95% CI 1.24–2.69; p=0.002). A similar association was observed for diffusing capacity of the lung for carbon monoxide (p=0.004). Consistent with this, CC-carriers had an increased risk of emphysema (OR 2.04, 95% CI 1.41–2.94; p=1.73×10−4) and displayed greater alveolar destruction. Finally, CC-carriers also had an increased risk for lung cancer (OR 1.90, 95% CI 1.21–2.99; p=0.005), and were more susceptible to developing both lung cancer and bronchial obstruction than lung cancer alone (OR 2.11, 95% CI 1.04–4.26; p=0.038).

Source and license

Adapted from rs31489(C;C) 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.