Intronic PLCE1 variant where the A allele raises systolic blood pressure and confers genome-wide significant risk for preeclampsia and pregnancy-induced hypertension through impaired podocyte calcium signaling and vascular pressure regulation

Near-TERC regulatory variant where the minor T allele associates with shorter telomeres and accelerated cellular aging, while the major C allele produces longer telomeres but paradoxically increases risk for certain cancers

Upstream regulatory variant in CYP7A1 that tags haplotypes affecting bile acid synthesis rate and LDL cholesterol clearance

Upstream regulatory variant in FCRL3 with a strong eQTL effect on FCRL3 expression in B cells, contributing to susceptibility to IgA nephropathy and potentially other autoimmune conditions through altered B cell receptor signalling thresholds

A 14-bp indel 2.2 kb upstream of IRF5 that is the most strongly associated cis-regulatory variant for IRF5 expression; the deletion allele tags protective haplotypes with lower SLE susceptibility, representing the third independent cis-regulatory signal in the IRF5 5' haplotype block alongside rs13245639 and rs729302

Synonymous exon 5 variant in IL-1β that increases IL-1β protein secretion despite no amino acid change, elevating chronic periodontitis risk and modulating inflammatory disease susceptibility

Intronic GREB1 variant at 2p25.1 where the T allele (GRCh38 reference) is associated with increased endometriosis risk; the G allele confers protection. Identified independently of the nearby rs13394619 GREB1 variant (r²=0.65 in Europeans — moderate LD, not redundant), with OR=1.13 and P=3×10⁻¹⁷ for all endometriosis and OR=1.16 (P=6×10⁻⁹) for stage 3/4 disease in the 2023 Rahmioglu Nature Genetics GWAS.

Pathogenic missense variant abolishing GALNS enzyme activity; biallelic carriers develop Mucopolysaccharidosis IVA (Morquio syndrome A), a severe skeletal lysosomal storage disorder; heterozygous carriers are clinically unaffected

Intronic variant in SLC17A1 (NPT1), the renal apical urate efflux transporter; the T allele impairs renal urate secretion, raising serum uric acid and increasing gout risk, with protective A allele frequency ~46% in Europeans

Intronic variant in HNRNPUL1, an RNA-processing gene highly expressed in macrophages and immune cells, associated with elevated early-onset coronary heart disease risk; the common A allele is the risk allele