Intronic PPP1R3B variant that increases hepatic glycogen accumulation, elevating liver enzymes and raising the risk of non-alcoholic fatty liver disease and gallstones

Vitamin D activation — converts D3 to 25(OH)D in the liver

Intergenic variant near ENPP1-associated regulatory loci; T allele is associated with altered ENPP1 expression and modest modulation of insulin receptor signaling tone through regulatory network effects.

Rare splice donor variant in ABCA7 that disrupts mRNA processing, causing haploinsufficiency of a key amyloid-clearance lipid transporter; one of the strongest non-APOE genetic risk factors for late-onset Alzheimer's disease

Intronic variant in TBX21 that forms a risk haplotype with rs16947078; the T allele is associated with increased susceptibility to allergic asthma through reduced T-bet-driven Th1 immune tone and excess Th2 polarization

Intronic PPARG variant associated with differential weight loss response to caloric restriction and circulating vitamin D levels

Missense variant in IFNL4 exon 2 that reduces IFN-λ4 protein activity; the Ser70 form (A allele) produces weaker antiviral signalling and is associated with better hepatitis C clearance among ΔG carriers

Nonsense mutation producing a severely truncated apolipoprotein B (apoB-32) that cannot be secreted as VLDL or LDL, causing familial hypobetalipoproteinemia with very low LDL cholesterol and hepatic steatosis

Intronic/regulatory variant near RGS16 that is the strongest single-locus morningness GWAS hit (P=7.0×10⁻¹⁸); the C allele (~4% global frequency) is associated with earlier chronotype via RGS16-mediated cAMP gating in the suprachiasmatic nucleus

Nonsense variant in dystrophin that eliminates full-length protein, causing X-linked dilated cardiomyopathy in males and significant carrier risk in females