Strongly protective variant against inflammatory bowel disease and other autoimmune conditions through impaired IL-23 signaling

Intergenic tag SNP in the PRG2/PRG3 eosinophil major basic protein gene cluster at 11q12.1 whose C allele increases susceptibility to Crohn's disease, implicating eosinophil granule protein-mediated epithelial damage in IBD pathogenesis

3' UTR variant in RASD1 (Dexras1), a GTPase that gates light signals to the circadian clock in the suprachiasmatic nucleus; the G allele is associated with earlier chronotype (morningness)

Intronic regulatory variant near the SIRT3 VNTR enhancer — the A allele increases SIRT3 expression and is linked to longevity in women

Rare pathogenic missense variant in the ACADM gene (p.Ser245Leu) causing medium-chain acyl-CoA dehydrogenase (MCAD) deficiency when inherited in biallelic form — resulting in impaired oxidation of medium-chain fatty acids and risk of hypoketotic hypoglycemia during fasting or illness

ADH1B variant encoding a ~100x faster alcohol dehydrogenase enzyme, causing rapid acetaldehyde accumulation, the "Asian flush" response, and strong protection against alcoholism — but elevated esophageal cancer risk in carriers who drink

Intronic PPARG variant in a metabolic syndrome–associated haplotype block; the A allele is enriched in people without metabolic syndrome and co-segregates with the protective AGCC haplotype across the PPARG locus

Rare APOB missense variant reducing LDL-receptor binding affinity by ~40-50%, classified as a variant of uncertain significance for familial-defective apolipoprotein B

Intronic variant in IL2RA intron 1 that creates an estrogen-responsive enhancer element — the risk C allele allows estrogen receptor alpha binding and increases IL2RA transcription, altering autoimmune disease susceptibility

Intergenic variant in the SOX9 upstream regulatory region on chromosome 17q24.3 associated with increased susceptibility to severe adolescent idiopathic scoliosis (AIS) across multiple ethnic populations