Intronic regulatory variant in TSHR intron 1; the A allele reduces thymic expression of the TSH receptor, impairing central tolerance to thyroid antigens and increasing susceptibility to Graves' disease — the most common autoimmune cause of hyperthyroidism

5' UTR variant that reduces Factor XII translation efficiency, lowering plasma FXII levels and reducing contact activation coagulation

Transcobalamin II variant affecting cellular delivery of vitamin B12 via holotranscobalamin binding efficiency

Strongest "R" allele in the melanocortin-1 receptor, shifting pigment from photoprotective eumelanin to pro-oxidant pheomelanin; doubles melanoma risk and triples non-melanoma skin cancer risk per allele

Intronic TLR2 variant that modulates innate immune signaling intensity; G allele reduces TLR2 pathway activity and is protective against tuberculosis and periodontitis, while the common A allele sustains higher TLR2 activation linked to cardiovascular risk markers and autoimmune inflammation

Pathogenic missense variant in the copper transporter ATP7B; heterozygous carriers are asymptomatic but can pass Wilson disease to children if their partner also carries an ATP7B pathogenic variant

Intronic SLC2A9 variant at the major urate-transporter locus on chromosome 4; the T allele tags a haplotype associated with reduced renal urate clearance and higher serum uric acid, while the C allele is protective; the variant contributes to the multi-signal genetic architecture of the SLC2A9 locus — the single largest genetic determinant of serum urate in humans

Truncating variant in the NLRP3 inflammasome brake that abolishes CARD8's caspase-1 inhibitory function, elevating IL-1β and IL-18 production and modifying susceptibility to autoimmune and inflammatory conditions

Intronic SYCP2L variant in a U12-type minor intron; the A allele splices more efficiently in oocytes, raising SYCP2L expression and supporting primordial follicle survival — the G allele reduces expression and associates with lower anti-Müllerian hormone levels and earlier natural menopause

Tag SNP for HLA-DQ2.5 haplotype, the strongest genetic risk factor for celiac disease and associated with multiple autoimmune conditions