Intronic variant in FNDC4 (fibronectin type III domain containing 4) on chromosome 2; the T allele is associated with earlier age at natural menopause and increased risk of primary ovarian insufficiency.

Synonymous exon 8 variant in perilipin 1 that tags a haplotype associated with fat mobilization efficiency and sex-specific obesity risk

Missense variant in the CTLA-4 leader peptide that reduces surface expression of this immune checkpoint receptor, increasing T cell activity and autoimmune disease risk

Heteroplasmic missense variant in the mitochondrially encoded ND5 subunit of complex I, causing variable-penetrance mitochondrial disease including Leigh syndrome, MELAS, and Leber optic atrophy depending on mutation load.

Pathogenic beta-myosin heavy chain missense variant causing a hypercontractile sarcomere; heterozygous carriers (CT) have high penetrance for hypertrophic cardiomyopathy and are at significant risk for sudden cardiac death and heart failure

Pathogenic missense variant in the cytochrome P450 1B1 enzyme that abolishes most enzyme activity, causing primary congenital glaucoma and reduced estrogen hydroxylation capacity

Intronic PSCA variant that tags a regulatory region active in bladder urothelium; the G allele is associated with increased UTI frequency in women and with peptic ulcer disease susceptibility

Intronic variant in the HLA class II region associated with nonobstructive azoospermia risk, likely through immune-mediated disruption of testicular spermatogenesis

IL12B 3'-UTR variant forming the canonical two-SNP psoriasis risk haplotype with rs6887695; T allele (coding-strand A, risk) drives substantially elevated psoriasis susceptibility; G allele is protective and predicts better ustekinumab response

Affects optic nerve development and retinal ganglion cell survival, strongly associated with primary open-angle glaucoma risk