Promoter variant in the PTGS2/COX-2 gene that reduces baseline COX-2 expression, increasing susceptibility to ulcerative colitis and modifying colorectal cancer and cardiovascular risk

Activin A signaling variant near INHBA linking adipocyte dysfunction to shared migraine and type 2 diabetes risk

Pathogenic missense in the y+LAT1 cationic amino acid transporter causing lysinuric protein intolerance, a recessive disorder of dibasic amino acid transport with hyperammonemia, protein aversion, and multi-organ complications.

Intronic variant near WNT4 on chromosome 1p36.12 associated in multiple GWAS with elevated risk of endometriosis, particularly moderate-to-severe (stage III/IV) disease, and with uterine fibroid susceptibility through disrupted Wnt signaling in the endometrium.

Intergenic tag SNP in the 6q23 regulatory region upstream of TNFAIP3 that co-tags haplotypes associated with altered A20 expression and susceptibility to multiple autoimmune and inflammatory conditions

Intronic tag SNP in HLA-DQA1 in strong LD with HLA-DQA1*01:02; the G allele increases peanut allergy susceptibility by tagging the DQA1*01:02 haplotype, raises HLA-DQB1 expression in CD4+ T cells, and drives protective peanut-specific IgG4 responses when peanut is consumed early in life

Intronic MAPT variant that regulates tau exon 3 splicing via hnRNP F/Q binding, distinguishing H1 (risk) from H2 (protective) haplotypes for Parkinson's disease, PSP, corticobasal degeneration, and Alzheimer's disease

Key enzyme for converting folate to its active methylfolate form

Reduces vitamin K metabolism, requiring higher warfarin doses to achieve anticoagulation

Intronic variant in the LYPLAL1 locus associated with waist-hip ratio and fat distribution, with sex-dimorphic effects strongest in women