Regulatory variant near WNT5A linked to type 2 diabetes risk via impaired Wnt5a-mediated insulin secretion and adipose inflammation

Intronic AKT1 variant near a conserved exon-intron boundary; the G allele is associated with elevated AKT phosphorylation activity and reduced probability of exceptional longevity in centenarian studies

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

Pathogenic missense variant in junctophilin-2 that disrupts sarcoplasmic reticulum coupling and calcium signaling, causing hypertrophic cardiomyopathy with high age-dependent penetrance

Upstream regulatory variant near BCO1 that reduces beta-carotene to vitamin A conversion efficiency by approximately 59%

Regulatory variant upstream of interferon alpha-21 associated with increased susceptibility to herpes zoster (shingles) via reduced type I interferon antiviral signaling

Six-base-pair in-frame deletion removing two amino acids from apolipoprotein L1, conferring trypanosome resistance but dramatically increasing chronic kidney disease risk in homozygous or compound heterozygous state with G1

Pathogenic nonsense variant in myocilin causing autosomal dominant juvenile and adult-onset open-angle glaucoma through trabecular meshwork dysfunction and elevated intraocular pressure

Intronic variant near CHRNA3 at 15q25.1 that acts as an eQTL for nicotinic receptor genes and is independently associated with heavy smoking and lung cancer risk

Upstream regulatory variant near MC4R that may create a transcription factor binding site, with emerging evidence linking the A allele to greater weight gain during clozapine treatment