Rare missense variant in CYP3A4 that reduces protein expression and enzymatic activity across multiple drug substrates

Regulatory variant near LRRC32 (GARP) on chromosome 11q13.5; the G allele increases LRRC32 expression and is associated with elevated risk of atopic asthma, atopic dermatitis, and the eczema-to-asthma progression (atopic march)

Intronic variant in the complement receptor 1 gene; the minor A allele impairs complement-mediated clearance of amyloid-beta and increases late-onset Alzheimer's disease risk with an odds ratio of ~1.21

Rare CYP2C9 N-terminal missense variant of uncertain functional significance in a CYP2C9 substrate metabolizer gene

Intronic SNX27 variant at the 1q21.3 GWAS locus that increases atopic dermatitis risk by disrupting T cell trafficking and immune synapse signalling; the locus also encompasses nearby RORC, the master Th17 transcription factor

Intergenic variant ~1.1 Mb upstream of NECTIN3/PVRL3; the strongest genome-wide signal for motion sickness susceptibility (P=4.2×10⁻⁴⁴ in 80,494 individuals), attributed to the PVRL3 locus whose encoded cell adhesion protein is required for normal ocular development and visual sensory input to the brain

GLP-1 receptor variant that alters response to GLP-1 agonist medications used for weight loss and type 2 diabetes

Missense variant (Leu242Val) in the HLA-DRA alpha chain; the T allele tags HLA class II haplotypes associated with peanut allergy (OR ~1.6, p=5.5×10⁻⁸) and is a functionally confirmed risk allele for drug hypersensitivity via altered antigen presentation

Intronic CYP2D6 haplotype tag variant (rs28371702 canonical form) associated with altered drug metabolism ratios for CYP2D6 substrates including aripiprazole and praziquantel

Intronic GSDMB variant that acts as an eQTL for ORMDL3; the T allele elevates ORMDL3 expression in airway cells, increasing sphingolipid-pathway ER stress and childhood asthma susceptibility