Vitamin D receptor start codon variant — determines receptor protein length and transcriptional activity

Intronic variant in HSPA4L within a chromosome 4 haplotype spanning PLK4; the A allele is associated with increased mitotic-origin embryo aneuploidy, reduced blastocyst formation in IVF, and elevated early recurrent miscarriage risk in women; HSPA4L itself is highly expressed in spermatogenic cells and required for normal sperm production

Intergenic variant downstream of the DEFA1A3 alpha-defensin locus; T risk allele is associated with a 28% increased risk of periodontitis through altered neutrophil defensin availability in the gingival immune response

Intronic PPARG variant associated with rate of change in insulin sensitivity over time, independent of adiposity

Intergenic variant downstream of TSHZ1, a transcription factor essential for inner ear and auditory canal development; the A allele is associated with increased constitutional susceptibility to motion sickness

Decreased function CYP2D6 variant common in Asian populations

Intergenic variant near ADRA2A

Deep intronic MTR variant associated with reduced cleft lip/palate risk via lower methionine synthase expression

Regulatory variant in a distal enhancer at 11q13.5 that controls GARP expression on regulatory T cells, impairing TGF-beta-mediated immune tolerance and increasing risk for asthma, allergic rhinitis, and inflammatory bowel disease

5' UTR variant in the beta-defensin 1 gene that reduces antimicrobial peptide expression in gut and mucosal epithelium, increasing susceptibility to colonic Crohn's disease and dental caries