This variant was seen in a homozygous fashion together with a homozygous frameshift yielding a termination codon at codon 219. Both male English siblings were diagnosed with recessive familial Hypercholesterolemia at ages 7 and 9. Their normal sister had neither variant and their (presumed?) normal mother was heterozygous for both alleles.
In a comparison of high and low plasma cholesterol groups (100 males in each), the authors did not see a higher concentration of this variant in the high cholesterol group. They conclude that this polymorphism is unlikely to be an important genetic determinant of plasma cholesterol levels in Caucasians. Counting chromosomes, high+: 5, high-: 195, low+: 9, low-: 191.