APOC3 promoter variant that disrupts insulin suppression of ApoC-III, raising plasma triglycerides and NAFLD risk

Most common pathogenic TTR variant causing hereditary transthyretin amyloidosis (hATTR) with peripheral neuropathy and cardiomyopathy

Wnt signaling co-receptor variant affecting bone mineral density and fracture risk

Nonsense variant in desmoplakin that truncates the protein at codon 1277, causing haploinsufficiency and predisposing heterozygous carriers to arrhythmogenic cardiomyopathy with left ventricular fibrosis

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

Coding variant replacing isoleucine with serine at TLR1 position 602, disrupting a transmembrane trafficking motif and preventing TLR1 from reaching the cell surface — reducing TLR1/TLR2 heterodimer signaling in response to bacterial triacylated lipopeptides

Determines secretor status — whether ABO blood group antigens are secreted into bodily fluids, affecting gut microbiome, vitamin B12 levels, and infection susceptibility

Missense variant in the ROS1 receptor tyrosine kinase associated with atherothrombotic cardiovascular risk in some populations

Regulatory variant in serotonin 2A receptor gene affecting SSRI side effects and potentially treatment response

Adipose tissue vascularization variant near VEGFA influencing fat distribution, insulin resistance, and waist-to-hip ratio with strong female-specific effects