Regulatory PPARA variant where TT homozygotes with type 2 diabetes experience a 51% reduction in major cardiovascular events when treated with fenofibrate, while C-allele carriers show no cardiovascular benefit from the drug

Missense variant in the fibrinogen alpha chain (FGA) that substitutes alanine for threonine at position 312, altering the alphaC domain targeted by factor XIIIa cross-linking and producing denser, lysis-resistant fibrin clots associated with elevated venous thromboembolism and pulmonary embolism risk

Regulatory tag SNP in the HLA-DRB1 region; the G allele marks the HLA-DRB1*04:01 shared epitope haplotype, conferring elevated susceptibility to anti-citrullinated protein antibody (ACPA)-positive rheumatoid arthritis and accelerated joint damage progression.

Protective adenine insertion disrupting the HSD17B13 splice donor site, producing a truncated loss-of-function protein that reduces risk of NASH, alcoholic liver disease, cirrhosis, and hepatocellular carcinoma

Intronic GC variant tagging a haplotype associated with lower circulating 25-hydroxyvitamin D and reduced response to vitamin D supplementation and UVB exposure

A 3'UTR variant in INO80 that is associated with delayed ovarian ageing; the T allele tags a haplotype linked to greater INO80 chromatin remodeling activity, supporting DNA double-strand break repair and telomere maintenance in oocytes.

NAT2 acetylation speed tag SNP - marks rapid vs slow acetylator haplotypes

Intronic IL33 variant where A-allele carriers showed a protective trend against childhood asthma in a Finnish birth cohort; may modulate IL-33 signalling by altering splice-site efficiency or regulatory element activity within the gene

Intronic INSR variant that may alter insulin receptor expression or isoform balance, linked to insulin signaling and psychiatric risk

Regulatory variant upstream of ferroportin (the sole cellular iron exporter) linked to restless legs syndrome through impaired brain iron delivery