Intronic IL2RA variant independently associated with rheumatoid arthritis risk and part of the IL-2 receptor locus haplotype architecture modulating Treg-driven immune tolerance

Pleiotropic missense variant reducing SH2B3 inhibitory function, increasing blood pressure, CAD risk, platelet count, and susceptibility to autoimmune diseases

Nonsense variant in the aldolase B gene creating a premature stop codon at position 204; pathogenic for hereditary fructose intolerance (HFI), an autosomal recessive disorder causing toxic fructose-1-phosphate accumulation in liver and kidneys when fructose is ingested

PPARD 3'UTR variant that reduces fatty acid oxidation capacity and blunts the metabolic response to lifestyle intervention

3'UTR variant in IL-17A that alters post-transcriptional regulation via miRNA targeting, modulating IL-17A protein output and Th17-driven inflammatory disease susceptibility

Intronic NFKB1 variant with genome-wide significant associations with ulcerative colitis and pleiotropic chronic inflammatory diseases; C allele increases susceptibility across multiple immune-mediated conditions

Missense variant in MYH15 encoding a Thr1105Ala substitution in myosin heavy chain 15, associated with modest coronary heart disease and noncardioembolic stroke risk

Rare missense variant near the BTD active site (p.Val89Gly) that likely reduces biotinidase enzyme activity; heterozygous carriers have partial enzyme reduction while biallelic inheritance causes biotinidase deficiency

Intronic variant in IKBKE (IKK-epsilon) associated with psoriasis susceptibility; the T allele modestly increases risk

Intronic PCOS susceptibility variant near TOX3; the G allele is associated with increased PCOS risk, insulin resistance, and altered metabolic features in affected women