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

Pathogenic missense variant in the ZIP4 intestinal zinc transporter; homozygosity causes acrodermatitis enteropathica, a rare but fully treatable zinc malabsorption disorder

Intronic PTPN22 variant independently associated with psoriasis and ankylosing spondylitis, operating through a distinct mechanism from the established R620W risk allele

Likely pathogenic missense variant in antithrombin III; the G allele converts Ser148 to Pro, causing type II pleiotropic antithrombin deficiency that reduces both anticoagulant activity and antigen levels, substantially elevating lifetime VTE risk in heterozygous carriers

Nonsense variant in sepiapterin reductase that abolishes BH4 biosynthesis, causing dopamine and serotonin deficiency in the brain; homozygosity leads to DOPA-responsive dystonia (SPR deficiency, OMIM

Tag SNP for HLA-C*06:02, the strongest genetic risk factor for psoriasis, determining disease phenotype and predicting differential response to biologic therapy