Missense variant in glyoxalase 1 reducing enzyme activity, allowing methylglyoxal to accumulate — a GABA-A receptor modulator that influences anxiety and sleep quality

Regulatory variant upstream of interferon alpha-21 associated with increased susceptibility to herpes zoster (shingles)

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

Intronic TSPAN15 variant; the C allele is associated with a 31% increased risk of venous thromboembolism

Regulatory variant near STK24 (MST3), a kinase essential for hippocampal neurogenesis and neuronal migration

Intronic MAPT variant that regulates tau exon 3 splicing via hnRNP F/Q binding, distinguishing H1 (risk) from H2 (protective) haplotypes for Parkinson's disease, PSP, corticobasal degeneration, and Alzheimer's disease

Intronic tag SNP near HLA-DQA1 that marks the DR3 (DRB1*0301-DQA1*0501-DQB1*0201) haplotype; the T allele tracks the highest-risk HLA genotype for type 1 diabetes

Histamine breakdown in gut - reduced activity means dietary histamine accumulates

3' UTR variant that increases CYP2E1 expression, raising hepatotoxicity risk from acetaminophen, ethanol, and occupational solvents

Rare gain-of-function variant causing autosomal dominant metabolic syndrome (AOMS3) — early-onset central obesity, insulin resistance, hypertriglyceridemia, and type 2 diabetes