3' UTR variant in IL1A (interleukin-1 alpha) associated with endometriosis susceptibility across multiple ethnic populations; one of eight replicated IL1A locus SNPs linked to the chronic pelvic inflammatory environment that promotes ectopic endometrial implantation.

Intronic variant in estrogen receptor alpha that has been associated with gestational hypertension risk and breast cancer susceptibility

Pathogenic LDLR missense variant abolishing LDL receptor surface expression, causing familial hypercholesterolemia with severely elevated LDL-C from birth

Missense variant reducing ERAP1 aminopeptidase activity, increasing ankylosing spondylitis and psoriasis risk through altered MHC class I peptide trimming — effect contingent on HLA-B27 and HLA-C*06:02 carrier status

Intronic regulatory variant in the filaggrin gene locus that reduces FLG expression and increases atopic dermatitis (eczema) susceptibility; A allele is markedly more common in East Asian and African populations

Intronic variant in the HLA class III region near MSH5 associated with lupus susceptibility, IFN-α regulation, and epistatic interactions with IRF5 and CTLA4

Primary intestinal and renal vitamin C transporter — variant reduces ascorbate absorption and reabsorption efficiency

Rare missense variant in the PROC gene encoding protein C; the A allele substitutes histidine for arginine at position 42, partially impairing anticoagulant function and increasing venous thromboembolism risk in heterozygous carriers

Intronic ITGAV variant associated with rheumatoid arthritis susceptibility in a family-based European study, though larger meta-analyses have not replicated the association; may tag a regulatory haplotype affecting integrin-mediated immune cell trafficking and synovial angiogenesis

Intronic STK39 variant that increases SPAK kinase expression, raising blood pressure through excess sodium reabsorption.