Sodium/potassium/calcium exchanger that regulates melanin production in skin cells

Regulatory variant in GDF5 affecting cartilage development and osteoarthritis risk in knees, hips, and spine

Intronic variant in CYP7A1 that tags a haplotype block influencing cholesterol 7α-hydroxylase expression; CC homozygotes show elevated LDL-cholesterol and increased subclinical atherosclerosis risk across multiple population studies

Intronic variant in FRMD5 — a cell-adhesion scaffolding gene — where the rare C allele is associated with reduced recurrent urinary tract infection susceptibility, implicating uroepithelial barrier integrity in innate mucosal defense

Intronic FADS2 variant with stronger independent associations than rs174575 for PUFA substrate accumulation; G allele carriers have elevated linoleic and alpha-linolenic acid with reduced arachidonic acid, EPA, and DHA, and show preferential benefit from high-dose omega-3 supplementation after cardiac events

Synonymous coding variant in exon 4 of IKBKE (IKK-epsilon); the C allele tags an IKBKE haplotype associated with increased SLE susceptibility, and has been implicated in antiviral innate immunity

Missense variant in the MCM8 DNA repair helicase associated with ovarian reserve and age at natural menopause; the A allele is linked to higher AMH levels and later menopause onset.

Intronic variant in the primary lymphangiogenesis growth factor gene; the minor A allele is protective against diabetic retinopathy and diabetic macular edema, reducing risk by ~33%

Intergenic variant 188kb downstream of MC4R affecting appetite regulation, meal size, and obesity risk

TNF promoter variant that disrupts an OCT-1 binding site, altering TNF-alpha transcription independently of the -308 variant; the T allele is associated with Crohn's disease susceptibility in Asian populations, psoriasis, and modified response to anti-TNF biologics