Frameshift deletion in the third filaggrin repeat domain — the third most common European FLG null allele, causing filaggrin haploinsufficiency in carriers and complete filaggrin deficiency in compound heterozygotes with R501X or 2282del4

Rare missense variant in Fc gamma receptor IIIa (CD16a) causing an Arg36Ser substitution, associated with systemic lupus erythematosus susceptibility in Chinese family-based studies

Intronic SKIV2L variant in the MHC class III region; the T allele tags an independent susceptibility signal for systemic lupus erythematosus separate from HLA-DRB1

Intronic SLC2A9 variant in a third independent haplotype block within the GLUT9 urate transporter locus; the A allele (reference, ~57% European frequency) is associated with elevated serum uric acid, while the protective G allele (~43% European) improves renal urate clearance — with stronger effects in women — and reduces dietary fructose-induced urate spikes

Synonymous coding variant (Lys89Lys) in the asialoglycoprotein receptor 1 gene that acts as an sQTL and eQTL, reducing ASGR1 expression and associating with lower LDL and non-HDL cholesterol at genome-wide significance and reduced coronary artery disease risk

Missense variant in Factor XIII A subunit; the Leu34 allele accelerates thrombin-driven FXIII activation, producing finer and more fibrinolysis-susceptible fibrin clots — moderately protective against venous thromboembolism and myocardial infarction, with context-dependent effects at elevated fibrinogen

Intronic UCP1 variant — the C allele is associated with reduced overweight risk and lower BMI, likely by influencing UCP1 expression in brown adipose tissue

Intronic regulatory variant in EXO1 (exonuclease 1) that increases EXO1 enhancer activity; the G allele is associated with earlier age at natural menopause (ovarian ageing) and elevated breast cancer risk through upregulated EXO1 expression

Intronic NADSYN1 variant in the DHCR7/NADSYN1 vitamin D locus; T allele tags the lower-vitamin-D haplotype, reducing 7-dehydrocholesterol availability for skin vitamin D3 synthesis

Regulatory variant near FOXE1 at 14q13.3 that reduces PTCSC3 tumor suppressor expression, increasing risk of papillary thyroid cancer