Rare pathogenic missense variant in cardiac alpha-tropomyosin causing familial hypertrophic cardiomyopathy through increased calcium sensitivity and impaired muscle relaxation

Rare NOD2 missense variant (Val793Met) identified in IBD deep-resequencing; contributes to Crohn's disease risk primarily in compound heterozygous state with other NOD2 variants

5'UTR variant that enhances PSMA6 transcription, amplifying proteasome-driven NF-κB signalling and increasing chronic inflammatory risk across cardiovascular and autoimmune conditions

Intergenic variant near MGST1 that modifies whether aspirin/NSAIDs reduce colorectal cancer risk; T allele carriers may lose the protective benefit

Intronic variant near the MEF2C transcription factor locus associated with increased risk of major depressive disorder through altered neuronal synapse regulation

Intronic variant in PCSK1 that tags the Q665E-S690T functional haplotype, reducing prohormone convertase 1/3 activity and impairing processing of proinsulin to insulin and POMC to satiety peptides

Cardiac myosin-binding protein variant strongly associated with endurance athlete status and elevated VO2max

3'UTR variant that controls GDF15 expression via microRNA regulation — C allele raises baseline GDF15 (metabolic and atherosclerosis risk); G allele lowers it (increased pregnancy nausea sensitivity)

GDF15 signal-peptide missense variant that tags a haplotype influencing circulating GDF15 levels — a stress-responsive cytokine driving appetite suppression, nausea, and cardiometabolic stress signaling via the brainstem GFRAL receptor

Strongly increases risk of age-related macular degeneration through impaired complement regulation on retinal cells and drusen formation