Intronic regulatory variant modulating FURIN expression via allele-specific DNA methylation, associated with coronary artery disease risk and blood pressure through macrophage and endothelial cell mechanisms

Promoter/5' UTR variant in the serotonin 5-HT5A receptor gene affecting receptor expression, linked to schizophrenia susceptibility and executive function

Promoter variant in the beta-defensin 1 gene that reduces constitutive hBD-1 expression, altering mucosal antimicrobial defense and susceptibility to inflammatory and infectious conditions

Rare intronic variant near a DENND2C splice site associated with an 8-fold increase in type 2 diabetes risk in carriers of European ancestry.

Ultra-rare pathogenic missense variant in the C6 fibronectin domain of cardiac myosin-binding protein C that destabilizes domain folding and causes functional haploinsufficiency, leading to hypertrophic cardiomyopathy with early onset and high penetrance.

Intronic variant in CCDC170 at the 6q25.1 estrogen-signaling locus, co-regulated with ESR1; the C allele increases endometriosis risk (OR 1.09) and has been independently replicated across European, East Asian, and Taiwanese-Han populations

Intronic variant in PPCDC associated with lower circulating serum zinc levels; the C allele reduces zinc by approximately 0.3 standard deviations and has been used as a genetic instrument in Mendelian randomization studies of zinc and cardiometabolic health.

Missense variant in NFKBIE (IκBε) reducing the inhibitory capacity of the IκB-epsilon protein, leading to heightened NF-κB inflammatory signaling; the G allele is associated with rheumatoid arthritis susceptibility across multiple ancestries

Intronic variant in TSHR intron 1; the C allele increases susceptibility to Graves' disease by altering thyroid-stimulating hormone receptor expression in the thymus, impairing central immune tolerance to TSHR — but notably shows no association with Graves' ophthalmopathy, suggesting variant-specific effects within this regulatory locus

A splice-region variant at the ERBB3/RAB5B locus on chromosome 12q13.2, a replicated PCOS susceptibility region; the A allele tags coordinated dysregulation of EGF receptor signalling, vesicular trafficking, and androgen co-repression in ovarian theca cells, increasing PCOS susceptibility with additive metabolic risk