Intronic variant within IL1A (Interleukin-1 alpha) associated with endometriosis risk in Japanese and European GWAS; the G allele increases susceptibility by tagging IL-1α-driven peritoneal inflammation at a locus replicated across ancestries

Rare pathogenic missense variant in protein S causing hereditary type III protein S deficiency, with carriers at elevated risk for venous thromboembolism and white matter stroke

Intronic regulatory variant in the URAT1 renal urate transporter gene; the T allele upregulates SLC22A12 expression, increasing urate reabsorption and raising serum uric acid, with TT individuals at substantially higher gout risk

Regulatory variant in the CYP19A1 aromatase gene that alters estrogen biosynthesis, influencing circulating estradiol levels, bone mineral density, and response to aromatase inhibitor therapy.

Regulatory variant 2kb upstream of BLK that tags reduced B-lymphoid tyrosine kinase expression, raising risk for systemic lupus erythematosus and autoimmune thyroid disease, particularly in Asian populations

Alpha-adducin missense variant that increases renal tubular sodium reabsorption by stabilizing Na+/K+-ATPase at the cell surface, causing salt-sensitive blood pressure elevation and impaired endothelial vasodilation in Trp allele carriers

Frameshift deletion eliminating filaggrin protein, the second most common European FLG null allele — causes ichthyosis vulgaris and atopic dermatitis, and together with R501X enables complete filaggrin deficiency in compound heterozygotes

Intronic TMPRSS6 variant associated with hemoglobin and hematocrit levels, influencing iron status through the hepcidin-regulatory pathway

Rare missense variant in the fibrinogen gamma chain that disrupts fibrin polymerization, producing structurally abnormal clots and a substantially elevated risk of venous thromboembolism

Common regulatory variant in the LDL receptor gene affecting LDLR expression, baseline LDL cholesterol levels, and statin response