Hypercholesterolemia

Hypercholesterolemia refers to high levels of cholesterol in the blood. This condition can contribute to many forms of disease, most notably cardiovascular disease Wikipedia.

SNPs that may play a role in hypercholesterolemia include:

• rs7566605
• rs854560
• rs505151

Familial hypercholesterolemia (FH) is an inherited condition often caused by mutations in the low-density lipoprotein receptor (LDLR) gene (Wikipedia). About 1 in 500 people carries a mutation that can cause FH, but not all carriers develop symptoms. Such mutations are more common in some ethnic groups, such as people with French-Canadian ancestry. These OMIM entries discusses various forms of FH:

• OMIM_143890, Autosomal dominant hypercholesterolemia
• OMIM_144010 , Autosomal dominant hypercholesterolemia, type B
• OMIM_603813, Autosomal recessive hypercholesterolemia

Familial hypercholesterolemia has a ClinGen Actionability summary for pathogenic variants in the LDLR, APOB and PCSK9 genes.