Intronic regulatory variant in the filaggrin gene locus that reduces FLG expression and increases atopic dermatitis (eczema) susceptibility; A allele is markedly more common in East Asian and African populations

An intronic variant in UIMC1 (RAP80), the core ubiquitin-binding subunit of the BRCA1-A complex that recruits BRCA1 to DNA double-strand breaks; the T allele is associated with earlier age at natural menopause, implicating reduced DNA repair fidelity in accelerated ovarian ageing

Second most common pathogenic MUTYH variant; biallelic carriers develop MUTYH-Associated Polyposis with ~10-fold increased colorectal cancer risk, while heterozygous carriers have modestly elevated CRC risk (OR ~1.2-1.5)

BANK1 ankyrin-domain missense variant that amplifies B-cell receptor signaling through altered protein-protein interactions; the G allele (Ala383) confers risk for lupus, rheumatoid arthritis, and systemic sclerosis, with RA risk requiring epistatic co-presence of BLK rs13277113

Missense variant in the major renal urate transporter; the Arg265 (C) allele is associated with less efficient urate excretion, elevating serum uric acid and gout risk, with the strongest effects in East Asian populations and in women

Intronic variant in beta-adducin modulating renal Na+/K+-ATPase trafficking and sodium reabsorption, associated with hypertension susceptibility in a Japanese GWAS

Pathogenic 4bp frameshift deletion in KCNQ1 that eliminates the IKs potassium channel's C-terminal domain, causing autosomal dominant Long QT syndrome type 1 with characteristic exercise- and swimming-triggered cardiac events

Missense variant in the fibrinogen beta chain that elevates circulating fibrinogen levels and alters fibrin network architecture, with sex-specific effects on hypertension risk in men

Regulates triglyceride metabolism through effects on APOC3 expression in the 3'UTR

Lipid transport variant that impairs VLDL secretion, creating a paradoxical trade-off between liver and heart health