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

CYP2E1 intronic haplotype tag — affects enzyme activity and susceptibility to drug-induced liver injury and chemical toxicity

Lactase persistence - ability to digest lactose (milk sugar) in adulthood

Intronic variant 80 bp from rs6031552 within the HNF4A P2 promoter haplotype block; part of a nine-SNP panel associated with insulin resistance and lower HDL in carriers

Missense variant in nucleobindin-2, the precursor protein cleaved to produce nesfatin-1 — a hypothalamic neuropeptide regulating appetite, energy homeostasis, blood pressure, and sleep-wake activity; the G allele is associated with protection against obesity and improved metabolic markers

Intronic variant in STAT6 near the 3' end of the gene that modulates STAT6 mRNA expression; the G allele is associated with atopic dermatitis risk and elevated Th2 immune tone through the same IL-4/IL-13 signaling pathway that drives allergic disease