Cholesterol & Lipoproteins

3'UTR variant in ABCG1 that may reduce transporter expression, impairing cholesterol efflux to HDL and increasing susceptibility to coronary artery disease.

Intronic variant in SCARB1 that affects SR-BI receptor function and the intestinal and hepatic uptake of fat-soluble vitamin E (alpha-tocopherol) and carotenoids from HDL particles

Intronic variant in SCARB1 that tags a haplotype affecting SR-BI receptor-mediated uptake of macular carotenoids (lutein, zeaxanthin) and beta-carotene from HDL particles; T allele carriers show up to 24% higher serum lutein per allele

Nonsense mutation in APOB creating a premature stop codon at position 1333, truncating apolipoprotein B-100 to ~30% of its normal length and causing familial hypobetalipoproteinemia with very low LDL cholesterol; pathogenic for FHBL

Nonsense mutation producing a severely truncated apolipoprotein B (apoB-32) that cannot be secreted as VLDL or LDL, causing familial hypobetalipoproteinemia with very low LDL cholesterol and hepatic steatosis

Rare APOB missense variant reducing LDL-receptor binding affinity by ~40-50%, classified as a variant of uncertain significance for familial-defective apolipoprotein B

Intronic variant in CYP7A1 that tags a haplotype block influencing cholesterol 7α-hydroxylase expression; CC homozygotes show elevated LDL-cholesterol and increased subclinical atherosclerosis risk across multiple population studies

CETP promoter variant that reduces CETP expression via Sp1/Sp3 repression, raising HDL cholesterol by ~3–6 mg/dL in A allele carriers

Gain-of-function missense variant in PCSK9 that increases intracellular LDL receptor degradation, causing autosomal dominant familial hypercholesterolemia

Intronic ABCG1 variant near the promoter region; homozygous carriers of the minor A allele showed a 36% lower odds of coronary artery disease in a Chinese Han cohort, suggesting a modest protective effect linked to the ABCG1 cholesterol efflux locus.

Intronic ABCA1 variant associated with lower HDL-cholesterol susceptibility and coronary heart disease risk at one of the most replicated lipid GWAS loci

Intronic ABCA1 variant associated with HDL-C levels under a recessive model; AA homozygotes show measurably different cholesterol efflux capacity and face a heightened risk of adverse outcomes when HDL-C is abnormal

Pathogenic LDLR missense variant abolishing LDL receptor surface expression, causing familial hypercholesterolemia with severely elevated LDL-C from birth

Intronic ABCA1 variant — T-allele homozygotes show modestly lower HDL

Intronic ABCA1 variant influencing HDL-cholesterol levels; the A allele is associated with modestly reduced HDL.

Lipid metabolism and Alzheimer's risk - E4 carriers respond worse to high saturated fat

CETP promoter variant that raises HDL cholesterol by reducing cholesteryl ester transfer protein activity; A allele carriers show higher HDL-C but mixed cardiovascular outcome evidence.

Intronic variant in the brain cholesterol 24-hydroxylase gene; C allele associated with a higher 24S-hydroxycholesterol/cholesterol ratio in CSF and modestly elevated Alzheimer's disease risk, primarily in East Asian populations

Intronic APOB variant where the A allele (plus strand) is associated with approximately 2-fold increased bile duct cancer risk in men; the G allele is common in East Asian populations and carries no elevated biliary risk

Second component of the APOL1 G1 kidney disease risk haplotype — a missense variant that, together with rs73885319 (S342G), confers 7- to 29-fold increased risk for non-diabetic CKD under a recessive inheritance model in African-ancestry populations

APOL1 G1 kidney disease risk variant — missense change that evolved for trypanosome resistance but causes nephropathy in the recessive state

APOE E2 variant - generally protective for cardiovascular health

3' UTR variant in SCARB1, lowering HDL cholesterol and impairing reverse cholesterol transport efficiency