Synonymous exon-11 tag SNP for the DPYD HapB3 haplotype; benign on its own but in near-complete linkage with the causal deep intronic splice variant rs75017182 that causes ~50% DPD activity loss

Intronic variant in RTEL1 (regulator of telomere elongation helicase 1) associated with atopic dermatitis risk; the A allele increases AD susceptibility

Variant in the PICALM gene affecting amyloid-beta clearance across the blood-brain barrier and Alzheimer's disease risk

Intronic variant in EIPR1 (endosomal trafficking protein) associated with pain sensitivity

Intronic FLG-locus variant strongly associated with atopic dermatitis — the C allele marks filaggrin deficiency through a skin-specific mechanism with a larger effect size (OR 1.66) than the classical R501X null allele

Promoter-region variant that modulates CD33 expression on microglia — the protective A allele reduces surface CD33, enhancing microglial clearance of amyloid-beta and conferring modest protection against late-onset Alzheimer's disease

Factor V Leiden - blood clotting disorder affecting thrombosis risk

Missense variant in the rhinovirus-C receptor CDHR3 that increases cell-surface receptor expression and viral binding ~10-fold, elevating risk of rhinovirus-C respiratory infections and childhood asthma exacerbations

Missense variant in TNF receptor 1 that causes low-penetrance TRAPS (recurrent fever syndrome) and independently raises multiple sclerosis risk ~1.6-fold

Intronic variant in the OCT1 organic cation transporter reducing hepatic metformin uptake and altering response to multiple cation-transported drugs