Intergenic variant in the SLC2A9 urate-transporter locus — the C allele is associated with lower serum uric acid levels and reduced gout risk

Intergenic variant 19 kb downstream of lipoprotein lipase (LPL) that tags a regulatory region affecting LPL expression; the rare G allele is associated with meaningfully lower triglycerides and higher HDL cholesterol.

Intronic variant in Complement Factor B associated with strongly elevated systemic lupus erythematosus risk

Cis-regulatory IRF5 variant in near-perfect LD (r²=0.97) with the rs729302 protective haplotype; the T allele reduces IRF5 expression and shows allele-specific transcription factor binding in EMSA, making it a functional candidate and a high-quality WGS tag for the 5' protective haplotype block that dampens interferon-driven autoimmune susceptibility

LDLR missense variant at position 827 within the cytoplasmic NPXY internalization motif; classified as uncertain significance for familial hypercholesterolemia; the rarer G>T change (Val827Phe) has been reported in FH patients

Upstream regulatory variant in CYP2R1 that tags a haplotype associated with reduced hepatic vitamin D 25-hydroxylation efficiency and lower circulating 25(OH)D levels

Chromatin remodeling variant near HMGA1 associated with waist-to-hip ratio and height

Common missense variant near the BRCA1 RING finger domain; classified as benign/likely benign — not a pathogenic BRCA1 mutation

Second most common inherited thrombophilia; the A allele raises prothrombin levels by 30%, increasing venous thromboembolism risk 2-5 fold and is highly actionable for women considering oral contraceptives

Intronic variant in kallikrein-4 that encodes the enamel maturation protease; A allele associated with increased caries susceptibility and molar hypomineralization in permanent dentition