Intronic variant in ZNF346 (chromosome 5q35.2), a proxy SNP for the UIMC1/RAP80 DNA-repair locus; the G allele may be associated with earlier age at natural menopause and modestly increased susceptibility to primary ovarian insufficiency

Missense variant in the protease-like domain of apolipoprotein(a) causing markedly elevated Lp(a) levels and substantially increased risk of coronary artery disease, peripheral vascular disease, and aortic valve stenosis; carriers show differential benefit from aspirin therapy

Intronic PPP1R3B variant that increases hepatic glycogen accumulation, elevating liver enzymes and raising the risk of gallstones

Regulatory variant in the 3'-flanking region of CYP1A1 that increases gene inducibility, producing more carcinogen-activating enzyme in oral and airway tissues upon tobacco smoke or dietary PAH exposure

3' UTR variant in the neurocan gene associated with bipolar disorder and schizophrenia risk, with measurable effects on hippocampal memory function and limbic brain structure

Intronic TCF7L2 variant tagging the diabetes-risk haplotype and associated with elevated proinsulin/insulin ratio through impaired beta-cell insulin processing

Deep intronic MTR variant associated with reduced cleft lip/palate risk via lower methionine synthase expression

No-function variant causing deficient thiopurine methylation; most common TPMT deficiency allele in East Asian and African populations

Intronic IL23R variant in strong linkage disequilibrium with the functional R381Q variant (rs11209026); the minor G allele tags the protective haplotype that dampens IL-23 receptor signalling, reducing risk for ankylosing spondylitis, Crohn's disease, ulcerative colitis, and psoriasis

3'UTR variant in TSLP that acts as an eQTL driving higher TSLP mRNA expression in nasal epithelium; the A allele is a risk factor for asthma, atopic dermatitis, and elevated IgE, and co-defines the high-risk genotype together with rs2289277