Missense variant in the endothelial protein C receptor gene that increases EPCR shedding, paradoxically raising plasma protein C levels while reducing endothelial anticoagulant activity and increasing VTE risk

Adipocyte transcription factor variant influencing central fat distribution and modifying weight-loss response to dietary fat

Intronic variant in TOMM40 (translocase of outer mitochondrial membrane 40) associated with aging-related verbal memory decline, accelerated hippocampal atrophy, and Alzheimer's disease risk, with effects partially independent of APOE

Gain-of-function missense variant in the IL-4 receptor alpha chain that amplifies Th2 immune signaling, increasing susceptibility to asthma, atopic dermatitis, and allergic disease

B12 recycling enzyme — regenerates active B12 for the methylation cycle

Intronic CYP1A2 variant near the 5' end; G allele is associated with altered metabolic ratios for CYP1A2 substrates including escitalopram

Intronic GCK variant 38 bp downstream of exon 7; the A allele (GRCh38 reference, minor at ~43% globally) has been associated with gestational diabetes risk in some small studies, though evidence is limited and inconsistent across populations

Intronic regulatory variant in FADS2; T allele carriers have lower D5D and D6D activity and reduced fasting insulin.

Intronic FOXO3 variant that disrupts an NKX3 transcription factor binding site; the longevity-associated C allele confers protection in male centenarians

Missense variant in core circadian clock gene PER2 that lengthens intrinsic circadian period and shifts chronotype toward eveningness