Fitness & Body

Beta-2 adrenergic receptor variant affecting receptor downregulation, exercise capacity, beta-agonist drug response, and cardiovascular function

Primary lactate transporter in skeletal muscle — affects lactate clearance during high-intensity exercise and recovery between intervals

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

3'UTR variant in PPARD that acts as the third tag in the elite athlete haplotype (rs2267668/rs2016520/rs1053049); TC carriers show enhanced skeletal muscle glucose uptake and insulin sensitivity; the A/C/C haplotype containing this C allele is dramatically underrepresented in elite athletes

FTO intron 1 variant associated with BMI and body fat accumulation, with strongest effects seen in Hispanic and African American populations

Upstream regulatory variant that increases LPAR1 transcriptional activity in synovial cells, associated with elevated knee osteoarthritis susceptibility in Japanese populations

An FTO intron-8 variant in the same haplotype block as rs1420318, with emerging associations with bone mineral density and alcohol dependence susceptibility; distinct from the primary intron-1 obesity cluster

Master regulator of cellular oxygen response influencing endurance capacity, training adaptability, and injury resilience in athletes

Intronic variant in MCF2L that acts as a synovial eQTL — A allele carriers have higher MCF2L expression in joint tissue and elevated osteoarthritis risk across large joints

Intronic variant in PPARGC1A that may modulate PGC-1alpha expression and mitochondrial biogenesis capacity, with a documented interaction with BMI in type 2 diabetes risk

Collagen fibril assembly variant linked to soft tissue injury risk and tendon flexibility

Intronic variant in the adenylyl cyclase 3 gene, which encodes a cAMP-producing enzyme essential for hypothalamic ciliary signaling that regulates appetite and body weight

FTO intron 8 variant associated with nominal spine bone mineral density effects and alcohol dependence susceptibility; low LD with the rs9939609 obesity cluster

Ultra-rare dominant missense variant in slow skeletal myosin-binding protein C that disrupts sarcomere structure, causing early-onset myopathy with myogenic tremor (MYOTREM) and, in some families, distal arthrogryposis.

Regulatory variant in GDF5 affecting cartilage development and osteoarthritis risk in knees, hips, and spine

Intronic variant affecting aggrecan expression and cartilage integrity, associated with ACL injury risk and intervertebral disc health

Long non-coding RNA regulating erythropoiesis, influencing hemoglobin levels and oxygen transport capacity in endurance athletes

FTO intron variant in the extended obesity-associated region, with exploratory association with Alzheimer's disease risk through metabolic pathways

Enzyme critical for energy production during high-intensity exercise; deficiency reduces sprint and power performance

The causal ACE insertion/deletion structural variant — presence or absence of a 287-bp Alu element in intron 16 drives ACE enzyme levels, with the I allele lowering ACE activity (endurance advantage) and the D allele raising it (power/strength adaptation)

Sp1 transcription factor binding site polymorphism affecting collagen production, bone mineral density, and osteoporotic fracture risk

Missense variant in PPARA that reduces receptor transcriptional activity, elevating LDL and triglycerides — particularly with low dietary PUFA intake — and blunting the lipid-improving response to omega-3 fatty acids and aerobic exercise

Upstream promoter-region ACE variant on a separate LD block from the I/D polymorphism — the C allele is associated with young-onset hypertension and sits in a haplotype context linked to higher cardiovascular and renal risk independent of ACE enzyme activity

Promoter variant controlling interleukin-6 expression — affects inflammation, exercise recovery, and cardiovascular risk

Beta-1 adrenergic receptor variant at position 49 affecting receptor downregulation kinetics, resting heart rate, heart failure prognosis, and endurance exercise capacity

Beta-1 adrenergic receptor variant where Arg389 produces higher basal activity and stronger catecholamine response, affecting exercise heart rate, beta-blocker pharmacogenomics, and cardiovascular risk

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

Determines presence of alpha-actinin-3 protein in fast-twitch muscle fibers, influencing sprint/power vs endurance capacity

Promoter variant affecting VEGF-A expression and angiogenesis, influencing muscle adaptation to training and soft tissue injury risk

Regulatory variant that increases PPARD transcription, enhancing fat oxidation during exercise and endurance capacity; the C allele is associated with elite endurance athlete status

Affects tenascin C protein levels and elasticity, influencing tendon injury risk and exercise-induced tissue adaptation

Missense variant in the DNA damage recognition gene XPC that reduces global-genome nucleotide excision repair capacity, affecting recovery from UV-induced damage, exercise-generated oxidative DNA lesions, and environmental carcinogen exposure

Intronic PPARD variant that impairs aerobic fitness gains and body composition improvement with training; G-allele carriers show reduced mitochondrial function and smaller muscle volume increases with exercise

Promoter polymorphism that disrupts an Sp1-binding site and reduces MMP-2 enzyme production, affecting extracellular matrix remodeling in connective tissue and adipose tissue

The most common pathogenic mutation in FKRP causing limb-girdle muscular dystrophy R9 (LGMD R9) in European populations; homozygous carriers develop progressive proximal muscle weakness

Missense variant in WNT16 that substitutes glycine for arginine at position 82, reducing cortical bone mineral density and increasing fracture risk

Promoter polymorphism affecting MMP3 enzyme expression levels, influencing cartilage degradation and connective tissue remodeling

Promoter variant affecting circulating IGF-1 levels and athletic performance potential

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

Intronic variant affecting cortical bone thickness, bone mineral density, and fracture risk

Intronic variant in the PGC-1alpha gene linked to population-specific type 2 diabetes risk and mitochondrial biogenesis regulation

Regulates fatty acid oxidation and muscle fiber composition, influencing endurance capacity and cardiac adaptation to exercise

Tag SNP for the ACE insertion/deletion polymorphism — the C allele tracks the insertion (lower ACE activity, endurance advantage) and the G allele tracks the deletion (higher ACE activity, power/strength advantage)

Missense variant in LRP5 that substitutes valine for methionine at position 667, modestly reducing Wnt signaling and lowering bone mineral density — particularly in physically active individuals

Low-frequency missense variant in SYPL2 associated with morbid obesity susceptibility and sex-specific fat distribution patterns

RYR1 missense variant causing malignant hyperthermia susceptibility and central core disease; carriers face life-threatening reactions to volatile anesthetics and succinylcholine

Intronic PPARD variant that independently impairs hepatic fat mobilization during lifestyle intervention; C-allele carriers show smaller reductions in liver fat regardless of how much total body fat they lose, linking this locus specifically to ectopic liver lipid regulation rather than general adiposity

Angiotensinogen level variant affecting blood pressure, sodium sensitivity, and cardiovascular adaptation to exercise

Intronic variant in the mitochondrial biogenesis regulator NRF2, associated with endurance athletic performance and intermittent exercise capacity

Master mitochondrial biogenesis regulator — Ser482 variant reduces PGC-1alpha transcriptional activity, impairing mitochondrial production, aerobic capacity, and metabolic adaptation

Regulatory variant in the RANKL gene affecting bone mineral density and osteoporotic fracture risk