Pathogenic missense variant in the ventricular regulatory myosin light chain gene causing familial hypertrophic cardiomyopathy with ~75% penetrance

East African lactase persistence allele — MCM6 enhancer SNP that independently maintains LCT expression in Oromo, Somali, Beja, and related pastoral populations

Intronic ABCA1 variant — the C allele tags a liver enhancer that boosts ABCA1 expression, raising HDL-cholesterol; T-allele homozygotes show modestly lower HDL and elevated cognitive decline risk

Rare protective intronic variant in the master immune transcription factor NF-κB1; the T allele is associated with reduced lung cancer susceptibility and altered innate immune signaling

A 3'UTR regulatory variant where the G allele creates a miR-338-3p binding site that suppresses FURIN expression, reducing cleavage of proBDNF to mature BDNF and shifting neurotrophin signaling toward pro-apoptotic pathways

Intronic IRGM variant that impairs autophagy-mediated clearance of intracellular bacteria, raising risk for Crohn's disease — particularly ileal disease and fistulizing complications

Independent 9p21.3 CAD risk signal in ANRIL; G allele elevates coronary artery disease risk ~30% per allele and is specifically amplified by sugar-sweetened beverage intake while vegetable intake attenuates risk

Splice donor variant in VWF intron 43 that destroys the canonical GT dinucleotide; predicted high-confidence loss-of-function associated with reduced VWF levels and type 1 von Willebrand disease in heterozygous carriers

The most common and clinically severe MEFV mutation, converting methionine to valine at codon 694 of pyrin; homozygous carriers typically develop full familial Mediterranean fever with early onset, frequent attacks, and high amyloidosis risk if untreated with colchicine

Intronic variant in the interferon lambda receptor 1 gene that elevates PsA risk by amplifying IL-29/IFN-lambda signaling in synovial tissue, marking those with skin psoriasis who are at elevated risk for progressing to joint disease