This variant is reported in a search for low penetrance Colorectal cancer alleles among a scan of 1,467 nonsynonymous polymorphisms. It seems to have a weakly-significant protective effect, with an odds ratio of 0.28 (0.09-0.84) and multiple-hypothesis-adjusted p-value of 0.03 for a recessive hypothesis. Kin-cohort data appears to have had insufficient observations to make any conclusions (confidence interval is extremely large: 0.00 – 12.63).
Based on the odds ratio of 0.28 (a protective effect), a recessive hypothesis, and minor allele frequency of 5% in controls (.25% homozygous), and a lifetime risk of 7% for colorectal cancer, we estimate this data suggests homozygotes for this variant have a 2-3% decreased risk. This number is likely to be higher than the true value (if any effect exists) due to publication bias.