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

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

Intronic ELMO1 variant acting as an eQTL that modulates engulfment and cell motility protein expression in thymic and peripheral immune cells, with GWAS associations with celiac disease, primary biliary cholangitis, and inflammatory bowel disease

Regulatory CpG-SNP downstream of SH2B1 that reduces gene expression via allele-specific methylation, impairing leptin and insulin signaling and increasing NAFLD severity and insulin resistance risk

Missense variant in CPT2 that destabilizes the carnitine palmitoyltransferase 2 enzyme, impairing mitochondrial uptake of long-chain fatty acids and causing recurrent exercise- and fever-induced rhabdomyolysis in homozygotes; the most common cause of adult myopathic CPT II deficiency in Europeans.