Intronic PPARG variant that accounts for ~7% of individual variation in body weight reduction during calorie restriction; the T allele also appears in PPARG haplotypes associated with metabolic and glucose traits across several populations

Intronic variant in the INPP5F/BAG3 locus associated with increased risk of REM sleep behavior disorder — an early marker of Lewy body neurodegeneration

Rare APOB stop-gain variant that truncates apolipoprotein B to ~27% of its full length, causing familial hypobetalipoproteinemia with very low LDL-C, hepatic steatosis risk, and fat-soluble vitamin malabsorption in the heterozygous state

Missense variant reducing CYP3A4 enzyme activity by 50–74% depending on substrate, found primarily in East Asian populations at ~2% allele frequency

Intronic variant in the brain-specific circadian transcription factor NPAS2; the T allele has been associated with prostate cancer susceptibility in a single candidate-gene study but lacks GWAS-level replication

Pathogenic missense variant in glutaryl-CoA dehydrogenase; homozygosity causes glutaric acidemia type 1, an organic acidemia leading to striatal necrosis and movement disorders if untreated; heterozygotes are unaffected carriers relevant for family planning

Intergenic variant between IL23R and IL12RB2 on chromosome 1p31.3 associated with increased risk of ankylosing spondylitis, Behçet's disease, and Crohn's disease through IL-23 pathway dysregulation

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

Intronic IL6 variant tagging a low-producing haplotype — the T allele is protective against inflammaging, diabetic nephropathy, and severe acute inflammation

Rare pathogenic missense variant in junctophilin-2 that disrupts T-tubule/sarcoplasmic reticulum coupling and impairs calcium-induced calcium release, causing hypertrophic cardiomyopathy