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.

Pleiotropic missense variant reducing SH2B3 inhibitory function, increasing blood pressure, CAD risk, platelet count, and susceptibility to autoimmune diseases

Protective loss-of-function variant in the PTPN22 catalytic domain that reduces phosphatase activity and lowers risk of SLE, RA, and ulcerative colitis

Pathogenic missense variant in the myosin motor domain causing hypertrophic cardiomyopathy with a 47% lifetime atrial fibrillation rate in affected adults; requires family cardiac screening

Near-gene regulatory variant near FUT6 that reduces fucosyltransferase expression and lowers circulating vitamin B12 — especially common in Indians

Intronic NFKB1 variant with genome-wide significant associations with ulcerative colitis and pleiotropic chronic inflammatory diseases; C allele increases susceptibility across multiple immune-mediated conditions

Intronic variant in IKBKE (IKK-epsilon) associated with psoriasis susceptibility; the T allele modestly increases risk by influencing the dual NF-kB/type I interferon signaling node encoded by this kinase

Intergenic variant in the MC4R regulatory haplotype block, tagging the same appetite-suppression pathway as rs17782313 and associated with increased BMI, fat mass, and obesity risk

Intronic variant in TMEM150B (19q13.42) associated with age at natural menopause and early menopause risk; the C allele may contribute to earlier follicular depletion, while the T allele has been linked to higher oocyte yield during controlled ovarian stimulation.

3' UTR variant in angiotensin II type 1 receptor affecting blood pressure regulation and ARB drug response