Missense variant in RGS16 that substitutes histidine for arginine at position 137 of the G-protein signaling regulator expressed in the suprachiasmatic nucleus; the common C allele (Arg137, ~97.5% globally) has modestly reduced RGS16 function compared to the rare T allele (His137, ~2.5%), which is associated with morningness through enhanced cAMP gating in the master circadian clock

Intronic CYP2J2 variant associated with increased myocardial infarction risk and female-specific hypertension susceptibility through reduced epoxyeicosatrienoic acid (EET) production

Intronic variant in estrogen receptor alpha associated with bone mineral density; the T allele is linked to lower BMD and may influence ESR1 expression in bone and reproductive tissues

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

Pathogenic missense variant in the MCAD enzyme causing medium-chain acyl-CoA dehydrogenase deficiency — an autosomal recessive disorder of mitochondrial fatty acid oxidation leading to hypoketotic hypoglycemia and metabolic crisis during fasting or illness

Ultra-rare APOE3 missense variant that dramatically reduces HSPG binding and tau propagation, conferring near-complete resistance to Alzheimer's disease in the homozygous state and a modest protective delay in heterozygotes

Pathogenic PROS1 missense variant in the SHBG-like domain that impairs protein S secretion; heterozygotes have reduced protein S activity and a substantially elevated risk of venous thromboembolism requiring specialist evaluation

Intronic variant in THADA (thyroid adenoma associated) on chromosome 2p21; the C allele is a PCOS risk allele at the THADA locus (companion tag SNP to rs13429458, the original Han Chinese GWAS lead), tagging a haplotype that reduces THADA-mediated SERCA uncoupling, impairing ER calcium homeostasis in pancreatic beta cells and predisposing to PCOS and insulin secretion defects

Intronic PTPN22 haplotype tag variant that refines autoimmune risk stratification beyond R620W and associates independently with Hashimoto's thyroiditis in Asian populations

Intronic variant in the SVCT2 vitamin C transporter — G allele associated with lower plasma vitamin C, higher glaucoma risk, and modified cognitive decline risk in APOE4 carriers