Intronic variant in THADA (thyroid adenoma associated) on chromosome 2p21; the C allele is a PCOS risk allele at the THADA locus (companion tag SNP to rs13429458, the original Han Chinese GWAS lead)

A missense variant in the TYK2 pseudokinase (JH2) domain that partially impairs TYK2 catalytic regulation, reducing IL-12-stimulated STAT4 signaling and conferring independent protection against rheumatoid arthritis, psoriasis, and SLE

Collagen fibril assembly variant linked to soft tissue injury risk

Regulatory variant that increases sortilin expression, lowering LDL cholesterol and cardiovascular risk

Intronic variant in the SVCT2 vitamin C transporter — G allele associated with lower plasma vitamin C and higher glaucoma risk

Intronic enhancer variant controlling OCA2 expression and determining blue versus brown eye color, the strongest genetic predictor of iris pigmentation

Regulatory variant near the NPR3 natriuretic peptide clearance receptor gene associated with gestational hypertension and preeclampsia risk; the C allele may increase NPR3-mediated peptide clearance, impairing vasodilatory natriuretic signaling during pregnancy

Intronic tagging variant in the TRAF3IP2/TRAF3IP2-AS1 locus that distinguishes two independent psoriasis risk haplotypes; the minor A allele marks a secondary haplotype (OR=1.8 for psoriasis) while the common G allele co-segregates with the primary D10N risk haplotype (OR=2.7); together the four-SNP set provides full haplotype coverage at this IL-17 adaptor locus

3'UTR variant that increases CCL2 mRNA stability via enhanced HuR binding, elevating MCP-1 protein output and monocyte recruitment in arterial inflammation

Loss-of-function variant in phosphodiesterase 3B — carriers have enhanced cAMP-mediated lipolysis, higher HDL cholesterol, lower triglycerides, and reduced cardiovascular disease risk