Regulatory variant upstream of IL33; the C allele elevates IL-33 expression, amplifying the alarmin signal through the ST2 receptor and raising susceptibility to asthma, allergic rhinitis, hay fever, and eosinophilic airway inflammation

Intronic regulatory variant in CLU (clusterin/apolipoprotein J) that controls neuronal clusterin expression; the protective T allele elevates CLU transcription, enhancing amyloid-beta clearance across the blood-brain barrier and reducing Alzheimer's disease risk

Regulatory intronic variant within ANRIL (CDKN2B-AS1) at the 9p21.3 locus; the T risk allele is associated with substantially elevated risk of myocardial infarction, brain aneurysm, and type 2 diabetes through ANRIL-mediated dysregulation of cellular senescence and beta-cell proliferation

Intronic MTRR tag SNP in a haplotype block where the C-allele variant associates with attenuated colorectal cancer survival benefit, modulated by pre-diagnostic alcohol intake

Promoter variant reducing UCP1 expression in brown adipose tissue, impairing cold-induced and postprandial thermogenesis and increasing visceral fat accumulation with age

Intronic CYP2C8 variant associated with paclitaxel-induced toxicity and bisphosphonate-related osteonecrosis risk in multiple myeloma

Intronic FADS2 haplotype tag SNP — the G allele is linked to altered delta-6 desaturase activity, shifting the conversion of linoleic acid toward lower arachidonic acid production and modifying LDL-C in a diet-dependent manner.

Promoter variant that reduces mTOR expression; the G allele lowers mTOR transcriptional activity and is associated with decreased cancer risk across multiple tumor types

Intronic variant in estrogen receptor alpha that alters ESR1 expression and has been associated with gestational hypertension risk and breast cancer susceptibility

Pathogenic LDLR missense variant abolishing LDL receptor surface expression, causing familial hypercholesterolemia with severely elevated LDL-C from birth