Near-gene regulatory variant affecting vitamin D 24-hydroxylase expression — modulates the rate at which active vitamin D is degraded

Intronic MTR variant associated with altered methionine synthase expression and neural tube defect risk

3-prime UTR variant in the SLC30A8 zinc transporter gene that alters ZnT8 mRNA expression via allele-specific mechanisms, providing additional signal on zinc-mediated insulin processing and type 2 diabetes susceptibility at this locus

Missense variant in EVI5's coiled-coil domain altering immune cell trafficking and multiple sclerosis susceptibility

SREBF1 intronic/3'UTR variant affecting SREBP-1c expression, associated with type 2 diabetes susceptibility, insulin resistance, triglyceride levels, and liver fibrosis risk.

Common regulatory variant in the FLG locus associated with impaired skin barrier function and substantially elevated risk for atopic dermatitis (eczema)

Upstream promoter variant in CETP that tags the HDL-raising haplotype block — C allele carriers have lower HDL cholesterol through modestly increased CETP-mediated cholesterol transfer from HDL to VLDL

Missense variant causing substrate-dependent reduced CYP3A4 activity, most prevalent in Japanese and East Asian populations

Rare PER3 missense variant that co-occurs on the FASPS3 haplotype with Pro415Ala (rs150812083), further destabilizing the circadian clock protein and contributing to advanced sleep phase and seasonal mood vulnerability

Finnish founder splice acceptor mutation abolishing y+LAT1 transport activity at the SLC7A7 intron 6 splice site, causing lysinuric protein intolerance when homozygous — a multisystem recessive disorder of cationic amino acid transport