| Haplogroups | Associations | Therapeutic applications |
| H | Predictor of survival in severe sepsis [37] | Patient stratification |
| J, U5 | Accelerated AIDS progression [52] | |
| H3, Uk, IWX | Protection against AIDS progression [52] | |
| CZD | Good disease-free survival in Squamous cell carcinoma patients [47] | |
| R | Predictor of survival in severe sepsis [38] | |
| B4 | Increased risk of diabetes [30] | Biomarker |
| H | Increased risk of ischemic cardiomiopathy [61] | |
| J | Increased frequency of optic neuropathy in LHON [36], and age related macular degeneration [31], Decreased incidence of ischemic cardiomiopathy [61] |
|
| N | Increased risk of Breast Cancer and esophageal squamous cell carcinoma [45] | |
| N9a | Protective for metabolic syndrome [28] | |
| U | Increased risk of prostate and renal cancer [46] Reduced risk of exfoliation glaucoma [62] |
|
| T | Increased risk of morbid obesity [29] | |
| Mutations | Associations | Therapeutic applications |
| 11778 G to A | Leber Hereditary Optic Neuropathy(LHON) [63] | Diagnosis |
| 3460 A to G and 14884 T to C | Leigh Syndrome [64] | |
| 8993 T to G | Nuerogenic Muscle weakness, ataxia, and retinitis pigmentosa (NARP) [64] | |
| 8344 A to G | Myoclonus Epilepsy and Ragged-Red Fibers(MERRF) [65] | |
| 3243 A to G | Mitochondrial Encephalopathy, lactic acidosis and stroke-like symptoms(MELAS) [66] |