Intronic variant in IL13 that tags the atopic risk haplotype; the minor T allele co-segregates with rs20541 (R130Q) and rs1295685 on the same risk haplotype block and is consistently associated with elevated serum IgE, asthma susceptibility, atopic dermatitis, and food allergy through amplified IL-13 Th2 signaling

Intronic GLIS3 variant in which the rare A allele modestly elevates TSH, reflecting reduced thyroid transcriptional activity; the same gene drives pancreatic beta cell development, linking thyroid-axis regulation to metabolic energy balance

Intronic MTRR tag SNP in a haplotype block where the C-allele variant associates with attenuated colorectal cancer survival benefit, modulated by pre-diagnostic alcohol intake

Intronic FADS2 variant; A allele carriers have reduced delta-6 desaturase activity, impairing conversion of dietary plant-based omega-3 (ALA) to EPA/DHA and omega-6 (LA) to arachidonic acid

Decreased function variant affecting warfarin, phenytoin, and NSAIDs

Aryl hydrocarbon receptor variant in the transactivation domain that alters AHR signaling, affecting CYP1A2 inducibility, caffeine metabolism patterns, and circadian clock interactions

Intronic FOXO3 tag SNP whose A allele associates with higher circulating IGF-1 at genome-wide significance; the G allele may favor lower IGF-1 and stronger FOXO3 pathway activation

Missense variant in the orexin/hypocretin receptor 1 that alters G-protein signaling, increasing susceptibility to migraine, panic disorder, mood dysregulation, and heightened arousal responses

Regulatory variant in the PSCA 5′ UTR that recruits the repressor YY1 to the promoter, suppressing PSCA expression in gastric epithelium and increasing susceptibility to diffuse-type gastric cancer and gastric mucosal atrophy

The most common pathogenic mutation in FKRP causing limb-girdle muscular dystrophy R9 (LGMD R9) in European populations; homozygous carriers develop progressive proximal muscle weakness