Promoter variant affecting adiponectin secretion and metabolic syndrome risk

Intestinal fat absorption - affects how efficiently you absorb dietary fat

Affects myostatin's ability to limit muscle growth, influencing muscle mass and strength response to training

Splice-site variant in the circadian clock gene CRY1 that causes exon 11 skipping, producing a gain-of-function protein that lengthens circadian period by ~30 minutes and drives Delayed Sleep Phase Disorder

Rare missense variant in BMP9/GDF2 that impairs processing of the mature BMP9 ligand, reducing ALK1 vascular signaling and predisposing carriers to hereditary hemorrhagic telangiectasia type 5 (HHT5)

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

GABA-A receptor alpha-2 subunit variant affecting alcohol response, anxiety, and addiction vulnerability

A rare missense variant in the TYK2 pseudokinase (JH2) domain that partially reduces TYK2 catalytic activity by disrupting intradomain regulatory contacts, conferring strong independent protection against rheumatoid arthritis (OR 0.53) and other autoimmune diseases including SLE

3'UTR variant in IL-17A that alters post-transcriptional regulation via miRNA targeting, modulating IL-17A protein output and Th17-driven inflammatory disease susceptibility

Pathogenic missense variant in the C3 domain of cardiac myosin-binding protein C replacing arginine with tryptophan at position 502, disrupting sarcomeric protein-protein interactions and causing hypertrophic cardiomyopathy through an autosomal dominant mechanism.