Intronic MTRR variant associated with altered folate-pathway cancer risk and B12-dependent homocysteine metabolism

Common intronic variant in HNF4A associated with modestly elevated type 2 diabetes risk via reduced pancreatic beta-cell function; identified through GWAS in South Asian and European populations

Missense variant in C1-inhibitor gene associated with insomnia risk through neuroinflammatory and blood-brain barrier mechanisms

Synonymous coding variant in CD36 fatty acid translocase; the minor A allele is associated with lower atheromatous plaque thickness and altered left ventricular diastolic parameters, likely through linked regulatory changes that affect CD36 expression.

Intronic PPARG variant in strong linkage disequilibrium with rs1175543; the G allele is associated with higher LDL-cholesterol and participates in multi-locus interactions affecting abdominal obesity, CRP, and metabolic trait variation.

Longevity-associated variant exhibiting overdominance where heterozygotes show enhanced cognition and lifespan while homozygotes have reduced survival

Intronic variant in RAD50 on chromosome 5q31.1 that was the top GWAS hit for asthma at this locus (P=3.04×10⁻⁷); the G allele tags a regulatory haplotype in the Th2 locus control region and is associated with elevated serum IgE and susceptibility to asthma and atopic disease through amplified IL-4/IL-13 output

Lysosomal K+/H+ channel variant (p.Met393Thr) that impairs lysosomal pH regulation, slows alpha-synuclein clearance, and increases risk for Parkinson's disease and REM sleep behavior disorder

Missense variant in the GLP-1 receptor that alters drug response to GLP-1 agonists (Ozempic, Wegovy, Saxenda) and DPP-4 inhibitors, with genome-wide significant protection against type 2 diabetes in East Asians

Intronic MTRR variant with sex-specific association with DNA methylation patterning in one-carbon metabolism