Intronic variant in the RAD50/TH2LCRR region at 5q31.1 that tags an enhancer hub coordinating IL-4, IL-5, and IL-13 expression; the G allele is associated with elevated serum IgE and increased susceptibility to the atopic march (eczema → food allergy → asthma → allergic rhinitis) through amplified Th2 cytokine output

Intronic variant in the mitochondrial folate enzyme MTHFD1L, associated with altered one-carbon metabolism and Alzheimer's disease risk

Intronic MAPT variant tagging the H1c sub-haplotype within the H1 clade, independently elevating risk for progressive supranuclear palsy and corticobasal degeneration through increased 4-repeat tau expression

Rare missense variant causing a Leu293Arg substitution in CYP3A4, associated with reduced enzyme activity and altered metabolism of tacrolimus, warfarin, and other CYP3A4 substrates; most frequent in East Asian populations

Regulates insulin signaling efficiency and cellular glucose uptake

Intronic variant in the orexin/hypocretin receptor 2 gene that tags the HCRTR2 chronotype locus; the C allele is associated with a modest shift toward morning preference

Missense variant in hepatic lipase encoding p.Phe356Leu; the rare C allele (Phe356) is the GRCh38 reference but represents the minority allele globally, while the common A allele (Leu356) is found in ~97% of people and classified benign

Intronic cis-regulatory PPARG variant where the C allele recruits PR domain repressor proteins, reducing PPARG transcription in adipose tissue and impairing adipocyte differentiation, fat distribution, and insulin sensitivity

3'UTR variant that increases glucocorticoid-resistant GRβ isoform expression, blunting cortisol signaling and HPA axis negative feedback

Reduces beta-carotene conversion to vitamin A (retinol) by ~32% per T allele, contributing to "poor converter" status for plant-based vitamin A