Intronic HNF4A tag SNP associated with altered bile acid synthesis regulation through modified HNF4A-driven CYP7A1 expression; linked to primary biliary cholangitis progression in a single Japanese cohort study

Synonymous variant in aromatase gene affecting estrogen production, bone density, and response to aromatase inhibitors

Intronic variant in the FADS1-FADS2 cluster influencing delta-6 desaturase activity and the efficiency of converting linoleic acid and alpha-linolenic acid into long-chain omega-6 and omega-3 fatty acids

Intronic variant in ADH5 (GSNOR) associated with elevated childhood asthma risk; homozygotes carry ~60% higher relative risk, linked to impaired S-nitrosothiol homeostasis and airway hyperresponsiveness

Promoter-region variant that modulates CD33 expression on microglia — the protective A allele reduces surface CD33, enhancing microglial clearance of amyloid-beta and conferring modest protection against late-onset Alzheimer's disease

Primary mitochondrial antioxidant enzyme - variant reduces superoxide detoxification in mitochondria

Intronic PTPN1 tag SNP in the PTP1B regulatory LD block; the minor A allele is associated with elevated total and LDL cholesterol in lean men and tags haplotypes linked to altered insulin signaling and metabolic risk

Promoter variant affecting 17α-hydroxylase expression and steroid hormone synthesis, influencing cortisol, DHEA, androgen, and estrogen production

A 3'UTR variant in the CERS4/NFILZ locus on chromosome 19 associated with atopic dermatitis risk (OR=1.06) in a large multi-ancestry GWAS meta-analysis; the T risk allele tags a ceramide-pathway locus where altered sphingolipid signaling impairs skin barrier function and amplifies IgE-mediated allergic inflammation.

Missense variant in TNF receptor 1 that causes low-penetrance TRAPS (recurrent fever syndrome) and independently raises multiple sclerosis risk ~1.6-fold via stronger TNF binding and altered receptor trafficking