This variant was found in a screen for mutations in eight patients with extreme hypertriglyceridemia, along with three other substitution variants. To follow up on this, the authors tested a set of controls and patients with severe hypertriglyceridemia. They found 28 out of 218 patients were carriers of this variant, and 13 out of 314 controls were carriers (none were homozygous in either group). Two-tailed Fisher’s Exact has p = 0.00039.
Assuming extreme hypertriglyceridemia has a prevalence of 3-5%, these numbers imply carriers of this variant have a 5-10% increased attributable risk.