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 FOXO3 longevity variant; C allele (minor in East Asians) associated with ~20% lower mortality risk and better cognitive aging in Chinese cohorts; eQTL affecting FOXO3 brain expression

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

Promoter variant in SLC22A5 (OCTN2) that reduces carnitine transporter expression and forms part of the IBD5 two-locus TC haplotype strongly associated with Crohn's disease susceptibility

Pathogenic start-codon variant in muscle glycogen phosphorylase; homozygous or compound heterozygous carriers develop McArdle disease (glycogen storage disease type V), with exercise intolerance, myoglobinuria, and the second-wind phenomenon

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

Intronic variant in PROX1, the master transcription factor for lymphatic endothelial identity and valve development, associated with increased varicose veins risk through impaired lymphatic-venous drainage

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