Intergenic protective variant near TNFAIP3 that tags a haplotype associated with enhanced A20-mediated NF-kB suppression, reducing rheumatoid arthritis risk at the 6q23 locus

Regulatory variant upstream of BLK that reduces B-lymphoid tyrosine kinase expression, impairing B-cell tolerance and raising risk for SLE, Sjögren's syndrome, systemic sclerosis, and rheumatoid arthritis

LPL 3'UTR variant disrupting a microRNA-410 binding site; the C allele abolishes miR-410-mediated suppression of LPL mRNA, raising lipoprotein lipase activity and lowering plasma triglycerides

Pathogenic NOTCH3 missense variant p.Arg332Cys that alters the cysteine count in EGF-like repeat 6, causing CADASIL — the most common inherited cause of ischemic stroke and vascular dementia

Regulatory variant ~2kb upstream of ABCG1 that modulates transporter expression in macrophages; the G allele is associated with reduced risk of ischemic stroke, particularly the atherothrombotic subtype, likely through effects on HDL-mediated cholesterol clearance from arterial plaques

Promoter-region variant in MTTP that reduces hepatic MTTP transcription; the G allele (common) is associated with lower MTTP expression, impaired VLDL secretion, and increased hepatic triglyceride accumulation

Factor V HR2 haplotype — a missense variant that mildly impairs the anticoagulant cofactor function of factor V; clinically significant mainly when co-inherited with Factor V Leiden, where the combination amplifies thrombotic risk 3- to 4-fold beyond Leiden alone

Promoter variant in the MLH1 DNA mismatch repair gene that reduces transcriptional activity and predisposes to promoter hypermethylation, increasing colorectal cancer risk through microsatellite instability

Promoter variant affecting IL-10 production — the master anti-inflammatory cytokine that regulates immune response

Intronic regulatory variant in CYP2R1 that reduces hepatic vitamin D 25-hydroxylase expression, lowering the rate of vitamin D activation and increasing susceptibility to vitamin D insufficiency