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Affects anandamide levels through altered FAAH enzyme stability, influencing pain sensitivity, stress response, fear extinction, and mood regulation
Wnt signaling co-receptor variant affecting bone mineral density and fracture risk
Synonymous PPARG variant where the T allele reduces type 2 diabetes risk and improves LDL and HDL cholesterol despite no amino acid change
Missense variant in Fc gamma receptor IIIa (CD16a) that determines NK cell IgG binding affinity and antibody-dependent cellular cytotoxicity — major pharmacogenomic factor for monoclonal antibody therapy response
Gain-of-function missense variant in the CARD9 adaptor protein that enhances antifungal immune signaling, increasing susceptibility to inflammatory bowel disease and allergic bronchopulmonary aspergillosis
East African lactase persistence allele — MCM6 enhancer SNP that independently maintains LCT expression in Oromo, Somali, Beja, and related pastoral populations
Intronic IL6R variant in linkage disequilibrium with the functional Asp358Ala (rs2228145) coding change; the C allele tags a haplotype associated with elevated CRP, LDL, and ApoB and with reduced protection from coronary heart disease risk
Intronic risk variant within TNFAIP3 intron 2 that independently increases susceptibility to rheumatoid arthritis and SLE through a distinct LD block from the nearby intergenic 6q23 signals, completing the three-signal risk model at the TNFAIP3 locus
3' UTR variant in angiotensin II type 1 receptor affecting blood pressure regulation and ARB drug response
Intronic variant in SIRT3 (the principal mitochondrial deacetylase) associated with uterine fibroid risk; the common T allele is linked to modestly higher fibroid susceptibility while the rarer C allele appears protective