id pos ref alt aachange homoplasmy heteroplasmy disease status pubmed_ids gbcnt gbfreq 571 72 T C noncoding nr nr Protective factor for stroke risk (hg V) Reported 1127 1.8212 205 114 C T noncoding + - BD-associated Reported 265 0.4282 355 146 T C noncoding + - Absence of Endometriosis Reported 11691 18.8921 166 150 C T noncoding + + Longevity / Cervical Carcinoma / HPV infection risk Conflicting reports 8048 13.0052 206 195 T C noncoding + + BD-associated / melanoma pts Reported 11678 18.8711 218 309 C CC noncoding nr nr AD-weakly associated Reported 698 1.1279 294 309 C CCC noncoding nr nr Higher in melanoma patient group Reported 253 0.4088 447 310 T C noncoding Possible protective factor for normal tension glaucoma Reported 24726 39.9560 295 315 C CC noncoding nr nr Melanoma patients Reported 18754 30.3056 517 351 A G noncoding nr nr Patient with CPEO Reported 0 0.0000 354 499 G A noncoding + - Endometriosis / possible protective factor for high altitude sicknes Reported 2330 3.7652 363 547 A T noncoding + - Tubulointerstitial kidney disease Reported 0 0.0000 356 573 C CCC noncoding + - Absence of Endometriosis Reported 667 1.0778 477 576 A G noncoding MT-TF precursor nr nr Hearing loss patient Reported 3 0.0048 416 576 A G nr nr Hearing loss patient Reported 32169613 3 0.0048 378 578 T C nr + Unspecified patient from clinical lab / MS Reported [VUS-] 31965079, 27119776 0 0.0000 109 582 T C - + Mitochondrial myopathy Reported 14659412, 19718780, 17878308 0 0.0000 1 583 G A - + MELAS / MM & EXIT Cfrm [VUS*] 9771776, 31965079, 16806928, 19718780, 17878308 0 0.0000 233 586 G A - + Extrapyramidal disorder with akinesia-rigidity, psychosis and SNHL Reported [VUS] 31965079, 21060018, 19718780, 31687337, 31463198, 31534910 0 0.0000 389 590 A G - + EXIT+ataxia+RP Reported [VUS] 32419253 0 0.0000 466 591 C T + - Gitelman-like syndrome Cfrm [LP] 34607911 0 0.0000 359 593 T C + - Nonsyndromic hearing loss / LHON Reported 22039503, 22110754, 31965079, 28579530, 33552719, 34053002, 34120304 321 0.5187 269 602 C T - + Axial myopathy with encephalopathy Reported 21424749, 22781547 0 0.0000 2 606 A G + + Myoglobinuria Unclear 9066365, 31965079, 14733964, 10611123, 17878308 23 0.0372 3 608 A G + - Tubulo-interstitial nephritis Reported [VUS] 11231339, 22781547, 17878308 0 0.0000 113 611 G A - + MERRF Reported [VUS] 15184630, 20142618, 19718780, 17878308 0 0.0000 237 616 T C + + Maternally inherited epilepsy / mito tubulointerstitial kidney disease (MITKD) / Gitelman-like syndrome Cfrm [LP] 31965079, 20142618, 28267784, 31722346, 35472031, 34607911 1 0.0016 161 616 T G + + Maternally inherited epilepsy Reported [VUS] 20142618 1 0.0016 331 617 G A - + Carotid artery stenosis Reported 19091329 0 0.0000 278 618 T G - + Ptosis CPEO MM & EXIT Reported 21882289 0 0.0000 4 618 T C - + MM Reported [VUS] 9636664, 31965079, 17878308 0 0.0000 129 622 G A - + EXIT & Deafness Reported [VUS] 16769874, 19718780, 17878308 0 0.0000 274 625 G A - + SNHL & Epilepsy Reported 21914246 0 0.0000 319 628 C T - + DEAF Reported 31965079, 22979943 3 0.0048 169 636 A G + - DEAF Reported 23847141, 27498855, 18790089 20 0.0323 364 641 A T - + Epileptic Encephalopathy Reported 31009750 0 0.0000 167 642 T C - + Ataxia, PEO, deafness Reported 18977334 0 0.0000 467 643 A G + - Gitelman-like syndrome Reported 34607911 0 0.0000 352 653 G GG - + Atherosclerosis study Reported 29670672 0 0.0000 340 653 G : - + Atherosclerosis risk Reported 28951770, 29670672 0 0.0000 267 663 A G + - Coronary atherosclerosis risk Reported 21099167 1770 2.8602 178 669 T C + - DEAF Reported 19371214, 17637808, 20353758, 18851951 114 0.1842 197 721 T C + - Possibly LVNC-associated Reported 20211276 139 0.2246 263 735 A G nr nr DEAF Reported 20055758, 23301511 77 0.1244 219 745 A G + - DEAF-associated Reported 20100600 38 0.0614 482 747 A G + - DEAF-associated Reported 21205314 10 0.0162 198 750 A A + - SZ-associated Reported 19290059, 23563965, 27217714 908 1.4673 444 773 T C - + Possible association with sepsis Reported 33504965 4 0.0065 220 792 C T + - Increased risk of nonsyndromic deafness Reported 20100600 5 0.0081 221 801 A G + - DEAF-associated Reported 20100600 7 0.0113 64 827 A G + - DEAF Conflicting reports 19144107, 20722495, 15286157, 15841390, 16528519, 18261986, 18790089, 19371214, 16650816, 20353758, 20100600, 18611982, 21495045, 17489842, 30523288, 27230773, 16782057, 27654872 1597 2.5807 222 839 A G + - DEAF-associated Reported 20100600, 21205314 7 0.0113 199 850 T C + - Possibly LVNC-associated Reported 20211276 123 0.1988 183 856 A G + - LHON helper / AD / DEAF-associated Reported 8728098, 19703591, 20100600 18 0.0291 270 869 C T + - found in 1 HCM patient Reported 16266762 75 0.1212 200 921 T C + - Possibly LVNC-associated Reported 20211276, 27217714 434 0.7013 445 955 A C - + Possible association with sepsis Reported 33504965 2 0.0032 211 960 C : + - Possibly DEAF-associated Reported 18851951 56 0.0905 212 960 C CC + - Possibly DEAF-associated Reported 12394346, 19371214, 18851951, 30523288, 27654872 389 0.6286 213 961 T G + - Possibly DEAF-associated Unclear 15286157, 18851951, 30523288, 23013294, 23969527, 19705751, 27654872 227 0.3668 107 961 T C + - DEAF, possibly LVNC-associated Unclear 7550368, 15841390, 16528519, 18325329, 19371214, 20100600, 17489842, 29336589, 27654872 559 0.9033 104 961 T CC + + DEAF / AD-associated / intellectual disability Reported [LB] 8104867, 14681830, 7550368, 10220138, 19144107, 24092330, 14581685, 10326749, 12037390, 12394346, 16120283, 18790089, 19703591, 15917167, 18851951, 20100600, 21495045, 17489842, 19705751, 30053855, 27654872 0 0.0000 110 965 C CC + - DEAF Unclear 14681830, 14581685, 14699607, 10326749, 12037390, 12394346, 15126302, 15841390, 16380089, 20100600, 30523288, 19705751 1 0.0016 209 988 G A nr nr Possible DEAF risk factor Reported 20353758 55 0.0889 170 990 T C + - DEAF Reported 18790089 44 0.0711 120 1005 T C + - DEAF Unclear 27498855, 15841390, 16528519, 17489842, 19705751 275 0.4444 223 1027 A G + - DEAF-associated Reported [VUS] 20100600, 21205314 19 0.0307 5 1095 T C + + SNHL Unclear 11313749, 11079536, 16947981, 19144107, 15555598, 15637703, 15841390, 16528519, 18325329, 20100600, 21495045, 17489842, 16875663, 30523288, 19705751, 27654872, 21205314 65 0.1050 121 1116 A G + - DEAF Reported 15841390, 17489842 10 0.0162 397 1119 T C nr nr Possible role in high altitude sickness Reported 23096691 330 0.5333 214 1180 T G + - Possibly DEAF-associated Reported 24092330, 15286157 0 0.0000 224 1192 C A + - DEAF-associated Reported 27498855, 20100600 12 0.0194 225 1192 C T + - DEAF-associated Reported 20100600 15 0.0242 215 1226 C G + - Possibly DEAF-associated Reported 24092330, 15286157 0 0.0000 162 1291 T C + - DEAF Unclear 16458854, 16574076, 16777068 56 0.0905 226 1310 C T + - DEAF-associated Reported 20100600, 21205314 39 0.0630 227 1331 A G + - DEAF-associated Reported 20100600 20 0.0323 344 1349 T G - + DEAF Reported 0 0.0000 228 1374 A G + - DEAF-associated Reported 24092330, 20100600 1 0.0016 456 1382 A C + - Longevity / T2D susceptibility Reported 26289118, 33468709 195 0.3151 271 1391 T C + + found in 1 HCM patient Reported 16266762 128 0.2068 483 1413 T C + - DEAF-associated Reported 21205314 82 0.1325 345 1420 T G + + DEAF Reported 0 0.0000 201 1438 A A + - SZ-associated Reported 16947981, 19290059, 27217714 2755 4.4519 229 1452 T C + - DEAF-associated Reported 20100600 53 0.0856 210 1453 A G nr nr Possible DEAF risk factor Reported 20353758 111 0.1794 346 1492 A C - + DEAF Reported 0 0.0000 103 1494 C T + - DEAF Cfrm [LP] 14681830, 16947981, 16826519, 19144107, 20860455, 25838379, 25837512, 29253894, 24092330, 15126302, 15722487, 16380089, 17434445, 17698030, 17698299, 18308926, 18325329, 16458854, 19687236, 20100600, 16890911, 21495045, 17489842, 21047563, 29707576, 28901477, 30523288, 20209292, 30693673, 27654872, 34467602, 32400865, 37988592, 21205314 5 0.0081 153 1517 A C - + DEAF Reported 18325329 0 0.0000 179 1537 C T + - DEAF; intellectual disability Reported 17637808 9 0.0145 347 1544 A T + - DEAF Reported 24092330 0 0.0000 348 1546 A T + - DEAF Reported 0 0.0000 349 1554 G A + - DEAF Reported 0 0.0000 8 1555 A G + + DEAF; autism spectrum intellectual disability; possibly antiatherosclerotic Cfrm [P] 8285309, 8414970, 7689389, 7649544, 9040738, 9490575, 9164619, 9391883, 9831149, 9777488, 9887373, 9915970, 10414625, 10521300, 9779807, 7550368, 8800928, 10788333, 11388757, 10220138, 12031626, 16947981, 9315872, 16826519, 18154640, 18674747, 19144107, 20860455, 22341444, 23774020, 23847141, 25838379, 25837512, 25313049, 26404827, 28049726, 29253894, 24092330, 30369864, 37587338, 12711217, 15179218, 12372057, 12655418, 14699607, 12370316, 10905659, 12011058, 10326749, 8817331, 12955586, 12054632, 10915767, 11230176, 10577941, 14755216, 12394346, 15286157, 15126302, 15708009, 15841390, 16375862, 16168391, 16152638, 16406239, 16528519, 10760311, 10854117, 18308926, 18325329, 12920080, 16132471, 18386806, 18215147, 16513084, 8797567, 11174059, 9950117, 10739773, 11857751, 15542390, 10633132, 9111378, 8973709, 16631122, 16458854, 16574076, 16777068, 16955413, 17999439, 18820594, 18282333, 19026397, 18790089, 19371214, 17637808, 11215518, 15292920, 17341440, 19370763, 19687236, 19818876, 20353758, 8687424, 10424809, 20100600, 18775412, 20064630, 20123042, 17452034, 21456129, 21162657, 21495045, 20111055, 17489842, 21621438, 21725156, 21838605, 21504270, 22475488, 19376484, 29182774, 27308839, 21047563, 17723226, 29348176, 28951770, 29707576, 29336589, 29340697, 30272361, 29670672, 23395464, 25834827, 19082356, 28320335, 30523288, 19705751, 30693673, 31540444, 23301511, 18930888, 26361786, 32991883, 32867169, 27654872, 34467602, 26741492, 22567359, 35614445, 34732400, 36292680, 37737178, 32400865, 37988592, 30671084, 38465286, 21205314 85 0.1374 272 1556 C T + - found in 1 HCM patient Reported 16266762 13 0.0210 350 1575 T G + - DEAF Reported 0 0.0000 351 1577 T G - + DEAF Reported 0 0.0000 9 1606 G A - + AMDF / retinal degeneration Cfrm [VUS*] 9450773, 31965079, 12056939, 20064630, 29340697, 35148219 0 0.0000 287 1607 T C + + Suspected mito disease Reported 31965079, 23463613 12 0.0194 475 1608 G A - + Leigh Sydrome / Parkinsonism with dystonia Reported 37950446, 38039349, 38039350 1 0.0016 396 1612 C T + - LVNC (left ventricular noncompaction) Reported as VUS 33082984 0 0.0000 337 1616 A G nr nr MELAS Reported 28893805 0 0.0000 10 1624 C T + - Leigh Syndrome Cfrm [LP] 11799391, 17886296, 25652200, 31965079, 18400783, 32970680 0 0.0000 244 1630 A G - + MNGIE-like disease / MELAS Cfrm [VUS*] 19252805, 29428506, 31965079, 21540128, 23463613, 30815362, 31181796, 30709774, 30809469 0 0.0000 487 1636 A G - + Global developmental delay, CMT disease, progressive myoclonic epilepsy, paroxysmal arrhythmia, and brain atrophy Reported 31965079, 39243325 1 0.0016 457 1640 A G + + MELAS Reported 23301511 2 0.0032 11 1642 G A - + MELAS Reported 9443499, 8797538 0 0.0000 284 1643 A G + + Late infantile onset fatal mito disease Reported 22638997, 31965079 1 0.0016 273 1644 G A - + Leigh Syndrome / HCM / MELAS Cfrm [LP] 23847141, 31965079, 34298071, 15320572, 18314141, 24691472 0 0.0000 12 1644 G T - + Adult Leigh Syndrome Reported 9270602 0 0.0000 125 1659 T C - + Movement Disorder Reported [VUS] 31965079, 15465092, 38973423 0 0.0000 393 1661 A G + - Charcot Marie Tooth (CMT) Reported [VUS] 28027978, 32715519 1 0.0016 453 2156 A AA - + Possible association with sepsis Reported 7723627, 16895436, 16714301, 29343773, 22333566, 33504965 204 0.3297 375 2158 T C nr nr Reduced risk PD Reported 23645593, 30369864 248 0.4008 371 2336 T C + - Hypertrophic cardiomyopathy Reported 30196098, 24367055 0 0.0000 202 2352 T C + - Possibly LVNC-associated / fibromyalgia Reported 27498855, 32658146, 20211276, 27217714 1627 2.6292 203 2361 G A + - Possibly LVNC-associated Reported 20211276 149 0.2408 447 2492 G A - + Possible association with sepsis Reported 33504965 1 0.0016 312 2639 C A + - Rare mutation in a single POAG patient Reported 27217714 1 0.0016 448 2647 G A - + Possible association with sepsis Reported 33504965 1 0.0016 387 2648 T C nr nr Rett Syndrome Reported 32105570 1 0.0016 368 2706 A A + - Increased risk of T2DM in haplogroup H Reported 29208909 13416 21.6796 204 2755 A G + - Possibly LVNC-associated Reported 20211276, 27217714, 32887465 275 0.4444 449 2806 T A - + Possible association with sepsis Reported 33504965 0 0.0000 13 2835 C T - + Rett Syndrome Reported 9436797, 10457616 73 0.1180 266 3010 G A + - Cyclic Vomiting Syndrome with Migraine / high altitude adaptation Reported 16947981, 16773565, 19368653, 23096691, 25332060, 33420243, 19220304, 27217714, 32991883 9439 15.2530 450 3054 G A - + Possible association with sepsis Reported 33504965 0 0.0000 177 3090 G A - + Myopathy Reported 17761147 2 0.0032 14 3093 C G - + MELAS Reported 11455195, 17660142 0 0.0000 451 3096 T C - + Possible association with sepsis Reported 33504965 18 0.0291 452 3098 T C - + Possible association with sepsis Reported 33504965 0 0.0000 311 3111 A T + - Migraine Reported 6 0.0097 15 3196 G A + + ADPD Reported 8104867, 19703591 15 0.0242 163 3236 A G nr nr Sporadic bilateral optic neuropathy / hearing loss Reported 31965079, 18676632, 29161289, 32169613 4 0.0065 122 3242 G A + + MM / HCM+renal tubular dysfunction Cfrm [LP] 22781753, 24667782, 25313049, 31965079, 15870203, 19460299, 24339796, 21364701, 20550934, 37038312, 33380464, 14576046, 10214753 0 0.0000 16 3243 A G - + MELAS / Leigh Syndrome / DMDF / MIDD / SNHL / CPEO / MM / FSGS / ASD / Cardiac+multi-organ dysfunction Cfrm [P] 8363469, 8356881, 1584755, 1922812, 1586140, 8122891, 7965431, 1684568, 8363452, 8477849, 1549215, 2102678, 1674297, 1606473, 1755869, 8201329, 1670860, 1370535, 1405464, 1433821, 8042948, 1673015, 8122892, 1732728, 1434521, 2268345, 1715668, 7680123, 8326463, 1463007, 8151636, 1434520, 1315123, 8442706, 8129854, 1442494, 1713858, 1436526, 7912129, 7689068, 2903249, 8482977, 1539604, 1378759, 8138807, 8487499, 8518790, 1899574, 7684581, 8154867, 7910800, 1284550, 8373389, 8063037, 7743754, 7732778, 7599217, 7600089, 7603515, 7473662, 7639309, 8392410, 7599199, 7625445, 7603513, 8773598, 8723687, 8723071, 9455929, 9761239, 9748738, 9266470, 9196933, 9365365, 9537417, 9341162, 9225833, 9353631, 9262546, 9386859, 9541428, 9219161, 9024220, 9105898, 9212310, 9633820, 9146825, 9541116, 9149827, 9625453, 9437322, 9384601, 9073028, 9628277, 9455930, 9353617, 9222976, 9780603, 9798744, 9772417, 8728705, 9828917, 9778452, 9741403, 9822126, 9683591, 9619647, 9830283, 9884447, 9831303, 9889270, 9744809, 9323566, 10407850, 10399093, 8559168, 8829651, 10862082, 10675533, 11241464, 10939569, 10611124, 11335700, 11085913, 11889254, 11145497, 10220138, 10514449, 12612863, 11074292, 10858457, 11708999, 11175302, 9708761, 15880407, 9175737, 11742413, 17236134, 11874423, 17886296, 18674747, 16483543, 16815877, 16120315, 19297390, 20471050, 20973690, 21263444, 22115768, 22411789, 22080835, 23390135, 19561330, 23297368, 23272214, 22921075, 19253345, 19470619, 18753147, 24003133, 22306605, 21944974, 24667782, 16490799, 25192935, 25192510, 24864317, 25652200, 27919073, 21724600, 25313049, 26404827, 28932107, 29253894, 29700325, 28916769, 29318513, 31253706, 30369864, 31965079, 33257573, 34146515, 34298071, 33763872, 34969639, 34482029, 37587338, 15258237, 12574954, 12207817, 12609508, 14648149, 15032978, 12391367, 12590018, 12089377, 12874464, 14648337, 15220216, 15238271, 15180810, 10636741, 9598702, 14571459, 14639582, 12627331, 12150714, 12838523, 14722523, 15111665, 14748908, 15056184, 15126302, 10699169, 15752543, 15660201, 15870203, 15893315, 8751860, 8777986, 8712800, 16050991, 16120283, 16476929, 16476925, 15477393, 12729737, 10699170, 12101407, 10854117, 16290150, 15286228, 10699115, 17540956, 17653689, 16950816, 15372523, 7565871, 18252214, 17656376, 18290960, 7735877, 10716261, 10665488, 18391161, 8676159, 8255441, 10025431, 17664998, 18332310, 18165269, 18180872, 18402672, 15164188, 17172609, 17172605, 18441172, 15466086, 15328490, 18241671, 18306232, 10611123, 10100521, 12080997, 11488279, 10633132, 10890789, 8544626, 11331900, 17541738, 8809026, 18569490, 18294221, 18455161, 18319067, 18279408, 10525672, 8517674, 16337222, 17300999, 7714102, 11733107, 11507652, 17823937, 18647627, 18990125, 18976726, 18826862, 18950542, 16120317, 17637808, 11215518, 15292920, 19370763, 16326995, 19460299, 19204268, 17210904, 16717204, 19502062, 19589463, 15737668, 19169492, 19486129, 17664050, 20194621, 19376555, 10424809, 15585516, 10452273, 11260383, 10462141, 9845835, 11044204, 10645055, 20064630, 19941338, 20123042, 20610441, 21067488, 17403843, 11393411, 17689757, 19234880, 17336924, 16384802, 14673589, 11700163, 20799154, 19470628, 20111055, 20972245, 21473984, 21427669, 21496500, 21120938, 21935892, 19718780, 22270878, 22577219, 22249460, 15073091, 23376095, 19273755, 23838278, 17587249, 20164463, 24642831, 21443929, 24375076, 17223431, 11472454, 23288206, 26722549, 26112752, 22781547, 21364701, 25451262, 21850008, 26897329, 27450679, 27923514, 27986282, 28054208, 29161289, 29079678, 20552288, 20812177, 28140742, 10366077, 23806424, 16876129, 28847973, 27322764, 27402860, 29556788, 29536171, 29376197, 30095618, 22033022, 29983856, 29735722, 29560378, 30133155, 29343702, 29480536, 29139113, 17030784, 29928977, 28320335, 29390138, 30146801, 31083203, 30461153, 30801962, 29266179, 30089816, 30058726, 31641105, 31867706, 31143779, 31347509, 31630688, 19199242, 31682520, 29756269, 28668821, 28951556, 29980632, 17323145, 19864902, 30406307, 30962477, 32786181, 32881886, 32167396, 32970680, 32313153, 28754700, 26469001, 32948797, 11379873, 32169613, 22538251, 16446307, 32722320, 32220313, 32085658, 32696575, 31722256, 31726383, 18176143, 32439810, 33811417, 32504279, 34118021, 32554818, 34467602, 34829316, 33717984, 34737295, 24931247, 22567359, 34599203, 36053827, 15701731, 36010669, 11271374, 33484420, 36611807, 23230016, 33438095, 33541179, 29868447, 35778412, 36744444, 36130631, 28716227, 31665838, 36928678, 23257519, 29666206, 37038312, 37439868, 37737178, 12944725, 37988592, 38397113, 38465286, 33380464, 10214753, 32818253, 23920046 10 0.0162 18 3243 A T - + MM / MELAS / SNHL / CPEO Cfrm [LP] 9168904, 31965079, 15477393, 12729737, 18203188, 20471262, 33924034, 20550934, 32273537, 30210801, 23220830, 25504047 0 0.0000 123 3244 G A - + MELAS Reported 24667782, 15870203, 19460299, 29161289, 20550934 4 0.0065 20 3249 G A - + KSS Reported [VUS] 11448301, 15477393, 29161289, 20550934, 33380464 0 0.0000 21 3250 T C - + MM / CPEO / cardiomyopathy Reported 1514779, 9003864, 12160969, 31965079, 14639582, 15870203, 15477393, 12729737, 15466077, 21364701, 29161289, 33259687, 28716227, 33380464, 10214753 0 0.0000 22 3251 A G - + MM / MELAS with chorea-ballism Cfrm [LP] 8265770, 8786060, 31965079, 29161289, 30837005, 38465286, 33380464 0 0.0000 288 3252 A T - + EXIT Reported 31965079, 23463613 0 0.0000 23 3252 A G - + MELAS Cfrm [LP] 8111377, 7603510, 25192510, 31965079, 15477393 0 0.0000 336 3253 T C + - Maternally inherited hypertension Reported 28679533, 29161289, 27544295, 34599203 7 0.0113 172 3254 C A - + Gestational Diabetes (GDM) Reported 10704697 33 0.0533 124 3254 C T + - CPEO / poss. hypertension factor Reported 15870203, 15477393, 20064630, 19778529, 29161289 18 0.0291 24 3254 C G - + MM Reported 9270605, 15477393, 29161289, 34599203 0 0.0000 116 3255 G A - + MERRF / KSS overlap Cfrm [LP] 31965079, 34969639, 12868503, 15477393, 20064630, 24134831 0 0.0000 25 3256 C T - + MELAS; possible atherosclerosis risk Cfrm [LP] 8254046, 7804130, 7599217, 9744809, 16483543, 31965079, 12972383, 15477393, 18165269, 20064630, 19941338, 16384802, 10953207, 19718780, 23376095, 28951770, 29670672, 23395464, 23874496, 32167396, 23056349 0 0.0000 26 3258 T C - + MELAS / Myopathy Cfrm [LP] 11335700, 23847141, 12798797, 15870203, 15477393 1 0.0016 27 3260 A G - + MMC / MELAS Cfrm [LP] 8132749, 8210299, 1677065, 7599217, 9744809, 8941275, 31965079, 33763872, 15477393, 18165269, 18647627, 20064630, 32167396, 24656211, 20965148, 19036942, 16141288, 19631764 0 0.0000 484 3261 A G + - Essential hypertension Reported 35657541 7 0.0113 28 3264 T C - + DM Reported 9203451, 15477393, 29161289 0 0.0000 29 3271 T C - + MELAS / DM / MERRF-like Cfrm [P] 1932147, 8280119, 8482977, 7684581, 7599217, 7603510, 7603512, 9455930, 9766710, 9744809, 10675533, 16120315, 21944974, 25192510, 31965079, 33763872, 12609508, 12527767, 15794182, 15870203, 15477393, 12729737, 18165269, 19370763, 20064630, 20972245, 24153443, 21364701, 29161289, 32167396, 11404119, 16006433, 25680467, 36769001, 31665838, 23257519, 29666206, 38465286, 10214753 0 0.0000 30 3273 T : - + PEM / retinal dystrophy in MELAS Cfrm [VUS*] 7854527, 30701423 0 0.0000 32 3273 T C - + Ocular myopathy Reported 11404120, 29161289 0 0.0000 265 3274 A G - + Neuropsychiatric syndrome + cataract Reported [VUS] 31965079, 16384802, 11723298, 24931247 0 0.0000 469 3274 AC : - + Encephalomyopathy with proteinuric kidney disease Reported 36404555 0 0.0000 33 3275 C A + - LHON Reported 10612844, 31965079, 15477393, 29161289 3 0.0048 358 3275 C T + - Metabolic syndrome and polycystic ovary syndrome / LHON Reported 31965079, 29155328, 30194987, 28027978, 33552719, 34053002, 34120304 3 0.0048 246 3277 G A + - Poss. hypertension factor Reported 31965079, 19778529 40 0.0646 247 3278 T C + - Poss. hypertension factor Reported 31965079, 19778529, 24448545 16 0.0259 34 3280 A G - + Myopathy Cfrm [VUS*] 11335700, 12402350, 12798797, 15870203, 15477393, 20064630 0 0.0000 342 3283 G A - + Late onset ocular myopathy Reported 17363246 0 0.0000 156 3287 C A - + Encephalomyopathy Reported 15670724, 19718780 0 0.0000 35 3288 A G - + Myopathy Reported [VUS] 10402027, 31965079, 34969639, 15477393, 23631826, 33380464, 23920046 0 0.0000 248 3290 T C + - Poss. hypertension factor Reported 31965079, 19778529, 29161289, 32167396, 33380464 132 0.2133 36 3291 T C - + MELAS / Myopathy / Deafness+Cognitive Impairment Cfrm [LP] 7520241, 7603510, 31965079, 10899447, 15870203, 15477393, 18165269, 18977334, 20064630, 22471645, 20943236, 21863273, 24338029, 29161289, 23273904, 32167396, 22538251, 36769001 0 0.0000 37 3302 A G - + MM Cfrm [LP] 8366098, 7635294, 31965079, 16050991, 15477393, 7735877, 17130166, 19370763, 20064630, 29161289, 26741492, 15351426, 28716227, 34991096, 35998911 0 0.0000 38 3303 C T + + MMC Cfrm [LP] 7906985, 9841711, 10431114, 23847141, 31965079, 12609508, 15477393, 12729737, 16337222, 20064630, 20226758, 21364701, 29161289, 32167396, 11271374, 23258140, 11768589, 15351426, 30404982, 33013660, 32348839, 10214753 0 0.0000 1 3308 T C M1T - + MELAS / DEAF enhancer / hypertension / LVNC / putative LHON Reported - possibly synergistic; hg L1b and A2i marker 427 0.6900 225 3308 T G M1Term + + Sudden Infant Death Reported 6 0.0097 167 3310 C T P2S + + Diabetes / HCM Reported 13 0.0210 2 3316 G A A4T + - Diabetes / LHON / PEO / vascular dementia Reported; hg D1 D2 M33 R30 marker 593 0.9583 324 3335 T C I10T + - LHON Reported 63 0.1018 357 3336 T C I10I - + Carotid atherosclerosis risk Reported 234 0.3781 248 3337 G A V11M + - Cardiomyopathy Reported - possibly synergistic 100 0.1616 185 3340 C T P12S + - Encephaloneuromyopathy Reported 3 0.0048 550 3365 T C L20P - + EXIT Reported 0 0.0000 130 3376 G A E24K + + LHON MELAS overlap Cfrm [VUS*] 0 0.0000 220 3380 G A R25Q - + MELAS Reported [VUS] 2 0.0032 312 3388 C A L28M nr nr Materally Inherited Nonsyndromic Deafness Reported 30 0.0485 325 3391 G A G29S + - LHON Reported 55 0.0889 3 3394 T C Y30H + - LHON / Diabetes / CPTdeficiency / high altitude adaptation Reported [VUS] -population dependent; hg M9 marker 822 1.3283 245 3395 A G Y30C + + LHON / HCM with hearing loss Reported 29 0.0469 252 3396 T C Y30Y + - NSHL / MIDD Reported / Unclear 475 0.7676 4 3397 A G M31V + - ADPD / possibly LVNC-cardiomyopathy associated / resistance to high altitude pulmonary edema Reported 171 0.2763 195 3398 T C M31T + - DMDF+HCM / GDM / possibly LVNC cardiomyopathy-associated Reported 300 0.4848 196 3399 A T M31I + - Gestational Diabetes (GDM) Reported 41 0.0663 259 3407 G A R34H + - HCM / Muscle involvement Conflicting reports 1 0.0016 186 3418 A G N38D + - AMegL Reported 1 0.0016 172 3421 G A V39I + - MIDD Reported 82 0.1325 559 3437 G A G44E - + Mitochondrial myopathy, EXIT Reported 0 0.0000 5 3460 G A A52T + + LHON Cfrm [P] 31 0.0501 537 3461 C T A52V nr nr LHON Reported 0 0.0000 287 3472 T C F56L + + LHON Reported 5 0.0081 162 3481 G A E59K - + MELAS / Progressive Encephalomyopathy Cfrm [LP] 0 0.0000 326 3488 T C L61P + - LHON Reported 1 0.0016 6 3496 G T A64S + - LHON Reported / Secondary 11 0.0178 7 3497 C T A64V + - LHON Reported / Secondary 213 0.3442 527 3502 T C S66P - + MELAS / MM w reversible COX deficiency Reported [VUS] 0 0.0000 507 3548 T C I81T nr nr Possible LHON helper (one 14484 patient) Reported 36 0.0582 327 3551 C T A82V + - LHON Reported 0 0.0000 457 3552 T A A82A + - Resistance to high altitude pulmonary edema (HAPE) / matrilineal hypertension Reported; hg C marker 2155 3.4824 402 3571 C T L89F nr nr Possible LHON helper mut / idiopathic epilepsy Reported 139 0.2246 528 3571 C : frameshift nr nr Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Cfrm [LP] 0 0.0000 328 3632 C T S109F + - LHON Reported 0 0.0000 323 3634 A G S110G + - LHON Reported 0 0.0000 8 3635 G A S110N + - LHON Cfrm [LP] 9 0.0145 212 3644 T C V113A nr nr BD-associated Reported 229 0.3701 381 3667 T G W121G + - Peripheral neuropathy of T2 diabetes Reported 0 0.0000 544 3685 T C Y127H - + Leigh Syndrome Reported [VUS] 0 0.0000 189 3688 G A A128T + - Leigh Syndrome Cfrm [LP] 0 0.0000 120 3697 G A G131S + + MELAS / Leigh Syndrome / LDYT / BSN Cfrm [LP] 0 0.0000 141 3700 G A A132T + - LHON Cfrm [VUS*] 3 0.0048 329 3713 T C V136A + - LHON Reported 0 0.0000 131 3733 G A E143K + + LHON Cfrm [VUS*] 2 0.0032 268 3733 G C E143Q - + LHON Reported 0 0.0000 579 3734 A G E143G + - LHON Reported [VUS] 1 0.0016 253 3736 G A V144I nr nr LHON Reported 108 0.1745 284 3745 G A A147T + + LHON / high altitude variant Reported / Population-dependent 120 0.1939 417 3761 C A S152Term - + Deafness w relapsing/remitting neurological symptoms Reported [VUS] 0 0.0000 330 3769 C G L155V + - LHON Reported 0 0.0000 331 3781 T C S159P + - LHON Reported 0 0.0000 80 3796 A G T164A - + Adult-Onset Dystonia Reported 291 0.4702 177 3833 T A L176Q + - PEG Reported 0 0.0000 546 3861 A C W185C - + SNHL + neurodevelopmental delay Reported 0 0.0000 249 3866 T C I187T nr nr LHON + limb claudication Reported / possibly synergistic 172 0.2779 181 3890 G A R195Q - + Progressive Encephalomyopathy / Leigh Syndrome / Optic Atrophy Cfrm [LP] 1 0.0016 339 3902 ACCTTGC GCAAGGT DLA-GKV - + EXIT+myalgia / severe LA+cardiac / 3-MGA aciduria / nephropathy+deafness+diabetes Cfrm [LP] 0 0.0000 332 3919 T C S205P + - LHON Reported 0 0.0000 400 3945 C A I213M nr nr Leigh-like phenotype Reported 0 0.0000 121 3946 G A E214K + + MELAS Cfrm [LP] 1 0.0016 122 3949 T C Y215H - + MELAS Reported [VUS] 1 0.0016 589 3955 G A A217T - + Leigh Syndrome Reported 0 0.0000 333 3958 G A G218S + - LHON Reported 0 0.0000 280 3959 G A G218D nr nr MELAS Reported 0 0.0000 281 3995 A G N230S nr nr MELAS Reported 20 0.0323 334 4081 T C F259L + - LHON Reported 1 0.0016 508 4115 T C F270S nr nr Possible LHON helper (one 11778 patient) Reported 0 0.0000 335 4123 A T I273F + - LHON Reported 0 0.0000 242 4132 G A A276T + - NAION-associated Reported [VUS] 9 0.0145 565 4135 T C Y277H - + LHON Reported 27 0.0436 9 4136 A G Y277C + - LHON Reported - possibly synergistic 74 0.1196 410 4142 G T R279L - + Leigh Syndrome Reported 0 0.0000 271 4142 G A R279Q - + Developmental delay, seizure, hypotonia Reported [VUS] 0 0.0000 10 4160 T C L285P + - LHON / LHON plus Reported - possibly synergistic 1 0.0016 336 4163 T C M286T + - LHON Reported 1 0.0016 11 4171 C A L289M + + LHON / Leigh-like phenotype Cfrm [VUS*] 2 0.0032 547 4175 G A W290Term - + EXIT Reported 0 0.0000 12 4216 T C Y304H + - LHON / Insulin Resistance /possible adaptive high altitude variant / miscarriage Conflicting reports 6423 10.3793 245 4263 A G + - Maternally inherited essential hypertension Reported 21134354, 19778529, 19895710, 21454794, 33380464 3 0.0048 106 4267 A G - + MM / CPEO Reported 12207935, 15477393, 17965958, 19718780 0 0.0000 488 4268 T C + - Maternally inherited hearing loss Reported 35071519 0 0.0000 39 4269 A G - + FICP Reported [VUS] 7518448, 1632786, 12655007, 9466989, 15477393, 15005711, 11000270, 20064630, 22781547, 33380464 1 0.0016 40 4274 T C - + CPEO / Motor Neuron Disease Reported 9339712, 17886296, 12655007, 16358336, 15477393, 11017193 0 0.0000 249 4277 T C + - HCM / Poss. hypertension factor Reported 31965079, 19778529, 21945886 20 0.0323 328 4279 A G - + Myoclonic epilepsy Reported 23601850 0 0.0000 268 4281 A G - + Recurrent Myoglobinuria Reported 21324494 1 0.0016 325 4282 G A - + CPEO Plus Reported 25034047 0 0.0000 41 4284 G A - + Varied familial presentation / spastic paraparesis / MERRF-like Reported [VUS] 11782991, 29253894, 31965079, 12655007, 15477393, 18977334, 22781547, 21766266 2 0.0032 42 4285 T C - + CPEO Reported 8607814, 10611124, 34969639, 12655007, 15477393, 11017193, 22781547 0 0.0000 293 4289 T C - + Retinopathy+diabetes+dysphagia+cerebral atrophy Reported 23696415 0 0.0000 115 4290 T C + + Progressive Encephalopathy / PEO,myopathy Reported 21533077, 31965079, 15121771, 15477393, 18977334 0 0.0000 119 4291 T C + - Hypomagnesemic Metabolic Syndrome / Gitelman-like syndrome Reported [VUS] 15498972, 34607911 0 0.0000 43 4295 A G + + MHCM / Maternally inherited hypertension / Maternally inherited deafness Reported [VUS] 8889580, 11406419, 16947981, 19043581, 21263444, 29253894, 31965079, 12655007, 15477393, 20064630, 18177739, 19778529, 22241583, 33398350, 34991096, 37789629 113 0.1826 303 4296 G A - + Leigh Syndrome Reported [VUS] 31965079, 21982779, 23395828, 23288206 0 0.0000 44 4298 G A - + CPEO / MS Cfrm [VUS*] 9473477, 17886296, 31965079, 12655007, 16120360, 15477393, 11017193, 10611123, 20064630, 19718780, 20164463 0 0.0000 45 4300 A G + + MICM Cfrm [LP] 7646516, 10065021, 23847141, 34146515, 12711217, 12655007, 12767666, 15477393, 20064630, 10334428, 39639347, 39791528 0 0.0000 459 4301 A T nr nr Patient with MELAS Reported 32504279 1 0.0016 231 4302 A G - + CPEO Reported 20149659 0 0.0000 240 4308 G A - + CPEO Cfrm [VUS*] 31965079, 21292040, 20884012 0 0.0000 46 4309 G A - + CPEO Reported 9808249, 12655007, 15477393, 37038312 0 0.0000 250 4314 T C + - Poss. hypertension factor Reported 31965079, 19778529 48 0.0776 241 4316 A G + + HCM with hearing loss / poss. hypertension factor Reported 21144833, 23847141, 31965079, 23301511 30 0.0485 47 4317 A G + - FICP / poss. Hypertension / DEAF factor Reported 1433821, 1978914, 7603519, 23774020, 23847141, 29253894, 31965079, 12655007, 9466989, 15477393, 19778529, 29348176, 30272361, 32169613, 33380464 48 0.0776 369 4317 A : nr nr Ptosis, deafness, stroke-like episodes Reported 23847141, 31965079, 18384291, 23463613 16 0.0259 48 4320 C T - + Mitochondrial Encephalocardiomyopathy Reported 7488201, 31965079, 12655007, 15477393, 20064630, 33380464 10 0.0162 318 4322 C CC - + Idiopathic Dilated Cardiomopathy Reported 18043288 3 0.0048 363 4322 C : + - mtDNA deletion and depletion with dilated cardiomyopathy Reported 29481798 0 0.0000 391 4327 T C - + Ataxia+, with RRF and COX deficiency Reported 31965079, 32419253 0 0.0000 49 4332 G A - + Encephalopathy / MELAS Cfrm [VUS*] 11335700, 11171912, 20064630, 19718780 0 0.0000 50 4336 T C + + ADPD / Hearing Loss & Migraine / autism spectrum / intellectual disability Reported [B] 8004796, 8104867, 7624338, 8741876, 10680807, 8848229, 11335700, 15247418, 9004131, 16947981, 11424923, 15786469, 16154228, 16773565, 15975594, 19076426, 30369864, 31965079, 10953187, 8723226, 15292920, 19703591, 10424809, 17174475, 29340697, 32337946, 37845428 542 0.8758 251 4343 A G + - Poss. hypertension factor Reported 31965079, 19778529 55 0.0889 478 4344 T C - + Developmental delay Reported 38730005 0 0.0000 252 4345 C T + - Poss. hypertension factor Reported 19778529 5 0.0081 253 4353 T C + - Poss. hypertension factor Reported 31965079, 19778529 37 0.0598 217 4363 T C + - Metabolic syndrome and polycystic ovary syndrome / possibly associated w DEAF + RP + dev delay / hypertension / LHON Reported 12406974, 27498855, 31965079, 19778529, 29155328, 30194987, 34053002, 34120304 54 0.0873 51 4369 A AA - + Myopathy Reported [VUS] 10996779, 19718780, 17560547 0 0.0000 289 4372 C T - + Suspected mito disease Reported [VUS] 31965079, 23463613 0 0.0000 205 4373 T C + - Tic disorder / possibly LVNC-associated Reported 31965079, 20211276, 33289513 11 0.0178 458 4375 C T nr nr Matrilineal hypertension risk factor Reported 29200319 9 0.0145 135 4381 A G + - LHON Reported 31965079, 17003408 4 0.0065 314 4386 T C + - Heart disease / myopathy / hypertension Conflicting reports 26782414, 31965079, 16337222, 24470521 189 0.3054 254 4387 C A + - Poss. hypertension factor Reported 19778529 2 0.0032 255 4388 A G + - Poss. hypertension factor; intellectual disability Reported 31965079, 19778529, 29340697 67 0.1083 256 4392 C T + - Poss. hypertension factor Reported 19778529 19 0.0307 257 4395 A G + - Poss. hypertension factor Reported 31965079, 19778529 27 0.0436 175 4401 A G + - Hypertension+Ventricular Hypertrophy Reported 19546379, 18701880, 31504769, 33380464 9 0.0145 324 4403 G A - + Mitochondrial myopathy Reported 24711008 0 0.0000 52 4409 T C - + Mitochondrial myopathy Reported [VUS] 9633749, 14648149, 19941338, 23376095, 23838278, 18835817 0 0.0000 258 4410 C A + - Poss. hypertension factor Reported 19778529 0 0.0000 367 4412 G A - + Seizures with myopathy & retinopathy Reported 31022467 0 0.0000 386 4414 T C - + Progressive external ophthalmoplegia and myopathy Reported 31488384 0 0.0000 186 4415 A G - + EXIT & APS2 Reported 19460300 0 0.0000 128 4435 A G + - LHON / LHON modulator / hypertension; autism spectrum; intellectual disability / hearing loss Reported 16431939, 19022198, 31965079, 16060290, 19398658, 17123466, 19778529, 21694735, 29222331, 29340697, 27214402, 32169613, 29211511, 33552719, 34053002, 34755158, 34120304, 34991096 60 0.0970 290 4437 C T + - Hypotonia, seizure, muscle weakness, lactic acidosis, hearing loss Reported [VUS] 31965079, 23463613, 27214402 0 0.0000 366 4440 G A - + Mitochondrial myopathy Reported 29174468, 29472063, 29482911, 32970680, 29467576 0 0.0000 53 4450 G A - + Myopathy / MELAS / Leigh Syndrome / EXIT Cfrm [LP] 9384601, 11335700, 30739820, 30952460, 25468263 0 0.0000 399 4452 T C nr nr Reported in tic disorder patient Reported 33289513 123 0.1988 218 4454 T C + - Possible contributor to mito dysfunction / hypertension Reported 12406974, 31965079, 19778529 228 0.3684 259 4456 C T - + Poss. hypertension factor Reported 31965079, 19778529 5 0.0081 343 4467 C A - + Maternally inherited hypertension Reported 28596595 0 0.0000 454 4491 G A V8I + - High altitude pulmonary edema susceptibility Reported 991 1.6014 482 4516 G A G16D + - Possible LHON modulator Reported 0 0.0000 572 4580 G A M37M nr nr Protective factor for stroke risk (hg V) Reported 1062 1.7161 529 4611 A : M-Term nr nr Leigh Syndrome Reported [VUS] 0 0.0000 240 4633 C G A55G + - LHON candidate Reported 0 0.0000 13 4640 C A I57M + - LHON / Epilepsy Reported 242 0.3911 176 4648 T C F60S + - PEG Reported 1 0.0016 194 4659 G A A64T + - possible PD risk factor / LHON Reported 103 0.1664 158 4681 T C L71P - + Leigh Syndrome Reported [VUS] 1 0.0016 201 4769 A A M100M + - SZ-associated Reported 1175 1.8987 569 4810 G A W114Term - + EXIT with myalgia & ophthalmoplegia Cfrm [LP] 0 0.0000 566 4831 G A G121D - + Isolated myopathy Reported 1 0.0016 169 4833 A G T122A + - Diabetes helper mutation AD, PD Reported 636 1.0277 243 4852 T A L128Q + - LHON Reported 0 0.0000 315 4883 C T P138P + - Glaucoma Conflicting reports 2802 4.5279 14 4917 A G N150D + - LHON / Insulin Resistance / AMD / NRTI-PN Reported 3106 5.0191 509 4924 G T S152I nr nr Possible LHON helper (one 11778 patient) Reported 0 0.0000 432 4935 A G T156A - + Lipomatosis+EXIT Reported 0 0.0000 455 4944 A G I159V + - High altitude pulmonary edema susceptibility Reported 10 0.0162 510 4959 G A A164T nr nr Possible LHON helper (one 11778 patient) Reported 69 0.1115 590 4983 C T Q172Term nr nr Unspecified suspected mitochondrial disorder Reported [VUS] 0 0.0000 272 5001 A AA frameshift - + Developmental delay, seizure, cardiomyopathy, lactic acidosis Reported [VUS] 0 0.0000 368 5095 T C I209T nr nr Proximal muscle weakness and atrophy Reported 18 0.0291 279 5133 AA : frameshift nr nr Exercise intolerance (EXIT) Reported [VUS] 0 0.0000 425 5153 A G L228L nr nr Recurrent pregnancy loss Reported 351 0.5672 138 5178 C A L237M + + Longevity / Extraversion / diabetes / AMS protection / blood iron metabolism / correlation with myocardial infarction / atherosclerosis Reported 2783 4.4972 15 5244 G A G259S - + LHON Reported [VUS] 0 0.0000 530 5367 ACCTCAATCACACTACTCC : frameshift nr nr Unspecified suspected mitochondrial disorder Reported [VUS] 0 0.0000 160 5452 C T T328M + - Progressive Encephalomyopathy Reported 20 0.0323 16 5460 G A A331T + + AD / PD / LHON Conflicting reports 4134 6.6803 17 5460 G T A331S + + AD Reported 0 0.0000 357 5512 A G + - Maternally inherited hypertension Reported 27687549 5 0.0081 339 5513 G A - + Mitochondrial encephalomyopathy with RP Reported 29625105 1 0.0016 283 5514 A G + - Neonatal onset mito disease Reported 22638997, 31965079, 26741492 47 0.0759 54 5521 G A - + Mitochondrial myopathy Cfrm [LP] 9673981, 10611124, 23847141, 29253894, 31965079, 23841600, 31181796, 37038312 0 0.0000 329 5522 G A - + Mitochondrial myopathy Reported 23232693, 30937556 0 0.0000 192 5523 T G - + Leigh Syndrome Reported [VUS] 19349200, 23301511 0 0.0000 105 5532 G A - + Gastrointestinal Syndrome Reported [VUS] 29253894, 15054399, 19718780, 39380483 1 0.0016 55 5537 A AT - + Leigh Syndrome Cfrm [LP] 9266739, 10862082, 12776230, 31965079, 14681757, 20064630, 23920046 0 0.0000 330 5538 G A - + Encephalomyopathy Reported [VUS] 31965079, 20708751, 32504279 0 0.0000 56 5540 G A - + Encephalomyopathy / DEAF Reported [VUS] 10762520, 23847141, 31965079, 15126302 0 0.0000 294 5541 C T - + MELAS+stroke-like episodes and cortical blindness+MRI shows occipital lobe infarct Reported 23696415, 33208382, 26297375, 29467576, 37737178 0 0.0000 154 5543 T C - + Mitochondrial myopathy Reported [VUS] 31965079, 34969639, 11506394, 15670724, 21712854, 19718780, 19273755, 26469001, 32948797 0 0.0000 160 5545 C T - + HCM severe multisystem disorder Reported [VUS] 18337306, 39380483 0 0.0000 57 5549 G A - + DEMCHO / mitochondrial encephalomyopathy Reported [VUS] 7695240, 34276539 0 0.0000 279 5556 G A - + Combined OXPHOS defects Cfrm [LP] 19433277, 19809478, 27450679 0 0.0000 281 5556 G C - + Mito encephalomyopathy Reported 19744136 0 0.0000 400 5558 A G nr nr Reported in tic disorder patient / NSSNHL Reported [VUS] 33289513, 22567359 123 0.1988 193 5559 A G - + Leigh Syndrome Reported 31965079, 19349200, 23301511 0 0.0000 168 5567 T C - + Myopathy Reported 31965079, 18977334, 21364701 57 0.0921 173 5568 A G + - DEAF Reported 31965079, 15292920 16 0.0259 208 5587 T C + + LHON / possible DEAF modifier / MIDD / dilated cardiomyopathy / hypertension / tic disorder Reported 20153673, 28990081, 9344764, 30783460, 33289513, 25968158, 22538251, 33552719, 34023389, 34053002, 34120304, 34993838 39 0.0630 130 5591 G A - + Myopathy Reported [VUS+] 31965079, 16476954, 19718780, 29139113 0 0.0000 315 5592 A G + - Coronary Heart Disease Reported 16947981, 24470521 32 0.0517 401 5595 G A nr nr Reported in tic disorder patient Reported 33289513 0 0.0000 440 5601 C T + - Possible helper mutation in maternally inherited hypertension and in LHON Reported 24470521, 33289513, 25968158, 32169613, 29211511, 33552719, 31939618 596 0.9631 373 5610 G A - + Myopathy Reported [VUS] 25873012 0 0.0000 322 5613 T C - + CPEO Reported 27014581 0 0.0000 417 5618 T C nr nr Hearing loss patient Reported 31965079, 17085680, 32169613 18 0.0291 58 5628 T C - + CPEO / DEAF enhancer / gout / tic disorder Reported 11404121, 16947981, 31965079, 17434445, 29976239, 32970680, 33289513 134 0.2165 374 5631 G A - + Myopathy Reported [VUS] 29253894, 25873012 1 0.0016 238 5636 T C - + PEO Reported 20813205 0 0.0000 418 5641 T C nr nr Hearing loss patient Reported 32169613 9 0.0145 151 5650 G A - + Myopathy Cfrm [LP] 17825557, 25652200, 29253894, 27626666, 30250142, 34050192, 11715067, 19718780, 32970680, 31181796 1 0.0016 353 5652 C G + - Dilated Cardiomyopathy Reported 9344764 0 0.0000 148 5655 T C + - DEAF enhancer / Hypertension risk Reported 10371545, 31965079, 14960712, 27544295, 27161322, 25968158, 32169613, 22538251, 34991096, 33380464 396 0.6399 326 5658 T C - + Mitochondrial myopathy Reported 23375258 0 0.0000 370 5667 G A nr nr Ptosis Reported [VUS] 23847141 0 0.0000 454 5669 G A - + Sporadic CPEO Reported 32869280 0 0.0000 481 5670 A G + - Progressive mitochondrial myopathy Reported 39173541 0 0.0000 392 5672 T C - + EXIT+myalgia+CPEO with RRF Reported 31965079, 32419253 0 0.0000 295 5690 A G - + CPEO+ptosis+proximal myopathy Cfrm [LP] 23696415, 23847141, 31181796 0 0.0000 59 5692 T C - + CPEO / MM Reported [VUS] 8129854, 7980504, 9384601, 11335700 1 0.0016 176 5693 T C + - Encephalomyopathy Reported 31965079, 15752774 0 0.0000 60 5698 G A - + CPEO / MM Reported 11335700, 18977334, 15564038, 20064630, 39175050 1 0.0016 485 5702 A G - + External ophthalmoplegia+ptosis Reported [VUS] 0 0.0000 455 5702 A : - + Sporadic CPEO Reported 32869280, 39175050 0 0.0000 61 5703 G A - + CPEO / MM Cfrm [P] 8254046, 9372914, 10332045, 26328603, 14518831, 20064630, 19718780, 31268906, 30897601, 32419253, 32970680, 38465286 1 0.0016 486 5708 C T + + Mitochondrial myopathy Reported 39175050 0 0.0000 320 5709 T C - + Ophthalmoparesis+respiratory impairment Reported 22189266, 39175050 0 0.0000 419 5715 A G nr nr Hearing loss patient Reported 32169613 13 0.0210 138 5728 T C - + Multiorgan failure / myopathy Cfrm [LP] 23847141, 31965079, 16908752, 31026515 0 0.0000 402 5774 T C nr nr Reported in tic disorder patient Reported 33289513 66 0.1067 140 5780 G A - + SNHL Reported 12802679, 31965079 24 0.0388 136 5783 G A - + Myopathy / deafness / gout / tic disorder Reported 31965079, 16955414, 29976239, 33289513, 36039763 43 0.0695 464 5789 T C - + Late-onset NARP Reported 35252560 0 0.0000 420 5794 T C nr nr Hearing loss/ tic disorder Reported 31965079, 15338331, 30430429, 33289513, 32169613 8 0.0129 158 5802 T C + - DEAF1555 increased penetrance / obesity risk Reported 31965079, 18386806, 19818876, 31868206, 32010935, 32003422, 22538251, 32400865 3 0.0048 421 5809 G A nr nr Hearing loss patient Reported 31965079, 32169613 1 0.0016 62 5814 T C - + Encephalopathy / gout Reported [LB] 9384601, 8829635, 11335700, 9185178, 16947981, 16172508, 31965079, 16132471, 18977334, 20064630, 29976239, 17241783 223 0.3604 149 5816 A G + - Progressive Dystonia Reported [VUS] 17886296, 25652200, 17724295, 37771542 0 0.0000 404 5819 T C nr nr Reported in tic disorder patient Reported 33289513 0 0.0000 462 5820 C A + - MERRF Reported 34433719 0 0.0000 194 5821 G A + - DEAF helper mut. Reported 23563965, 31965079, 16364244, 16955413, 19818876, 22538251 374 0.6044 422 5822 G A nr nr Hearing loss patient Reported 31965079, 32169613 6 0.0097 460 5835 G A nr nr Patient with proximal myopathy Reported 18384291, 32504279, 30643656, 31355027 1 0.0016 114 5843 A G + - FSGS / Mitochondrial Cytopathy Reported 31965079, 14598342 469 0.7579 63 5874 T C - + EXIT Reported [VUS] 11071502, 6095966 0 0.0000 461 5877 C T - + CPEO Reported [VUS] 11594340 0 0.0000 479 5888 T : - + CPEO Reported [VUS] 11756614 0 0.0000 379 5889 A G - + Multisystem mitochondrial disorder Reported 31965079, 33279411 0 0.0000 591 5906 G A M1M - + MELAS/Leigh overlap Syndrome Reported 0 0.0000 101 5911 C T A3V + - Prostate Cancer Reported 260 0.4201 102 5913 G A D4N + - Prostate Cancer / hypertension Reported 549 0.8872 18 5920 G A W6Term - + Myoglobinuria / EXIT Cfrm [LP] 0 0.0000 103 5935 A G N11S + - Prostate Cancer Reported 1 0.0016 104 5973 G A A24T + - Prostate Cancer Reported 15 0.0242 137 6020 CGAGC : AELGQ-AGPATerm - + Motor Neuron Disease Reported 0 0.0000 490 6020 C A A39A - + Possible association with sepsis Reported 0 0.0000 105 6081 G A A60T + - Prostate Cancer Reported 1 0.0016 531 6145 G A W81Term nr nr Unspecified suspected mitochondrial disorder Reported [VUS] 0 0.0000 106 6150 G A V83I + - Prostate Cancer / POAG (primary open-angle glaucoma) risk factor Reported 252 0.4072 96 6253 T C M117T + - Prostate Cancer / enriched in POAG cohort Reported 594 0.9599 98 6261 G A A120T + - Prostate Cancer / LHON Reported 500 0.8080 107 6267 G A A122T + - Prostate Cancer Reported 96 0.1551 108 6285 G A V128I + - Prostate Cancer Reported 130 0.2101 396 6307 A G CO1:N135S GAU:F95L . + Asthenozoospermic infertility Reported 3 0.0048 184 6328 C T CO1:S142F GAU:E88K + - EXIT (Exercise Intolerance) Reported [VUS] 0 0.0000 97 6340 C T CO1:T146I GAU:V84I + - Prostate Cancer Reported 99 0.1600 491 6367 T C CO1:V155A GAU:T75A - + Possible association with sepsis Reported 23 0.0372 395 6459 T C CO1:W186R GAU:Q44R + - Sepsis susceptibility Reported 0 0.0000 412 6474 A G CO1:T191A GAU:V39A + - Maternally inherited childhood epilepsy and ataxia Reported 0 0.0000 109 6480 G A CO1:V193I GAU:T37I + - Prostate Cancer / enriched in POAG cohort Reported 156 0.2521 19 6489 C A CO1:L196I GAU:Term34M - + CO1 deficiency with epilepsia partialis continua Reported 90 0.1454 532 6526 T C CO1:M208T GAU:M22V nr nr Developmental delay, hypotonia, myopathy, failure to thrive Reported [VUS] 0 0.0000 492 6544 A C CO1:N214T GAU:L16V - + Possible association with sepsis Reported 0 0.0000 409 6547 T C CO1:L215P GAU:Term15G - + Leigh Syndrome Reported 4 0.0065 411 6579 G A CO1:G226Term GAU:P4L - + Leigh Syndrome Reported 0 0.0000 267 6597 C A Q232K - + MELAS-like syndrome Reported 0 0.0000 493 6649 C T P249L - + Possible association with sepsis Reported 0 0.0000 99 6663 A G I254V + - Prostate Cancer Reported 198 0.3200 190 6698 A : K-K_frameshift - + Myopathy Reported 0 0.0000 123 6708 G A G269Term - + MM & Rhabdomyolysis Reported 0 0.0000 90 6721 T C M273T - + Acquired Idiopathic Sideroblastic Anemia Reported [VUS] 0 0.0000 91 6742 T C I280T - + Acquired Idiopathic Sideroblastic Anemia Reported [VUS] 0 0.0000 374 6860 A C K319N + - Dilated Cardiomyopathy Reported 0 0.0000 20 6930 G A G343Term - + Multisystem Disorder Cfrm [LP] 0 0.0000 183 6955 G A G351D + + Mild EXIT and MR Reported 1 0.0016 321 6962 G A L353L + - Possible helper variant for 15927A Reported 1523 2.4611 216 7023 G A V374M - + MELAS-like syndrome Reported 1 0.0016 110 7041 G A V380I + - Prostate Cancer Reported 6 0.0097 494 7065 G A A388T - + Possible association with sepsis Reported 0 0.0000 111 7080 T C F393L + - Prostate Cancer Reported 68 0.1099 112 7083 A G I394V + - Prostate Cancer Reported 16 0.0259 113 7158 A G I419V + - Prostate Cancer Reported 57 0.0921 533 7222 A G Y440C nr nr Mitochondrial myopathy Reported [VUS] 0 0.0000 489 7299 A G M466V + - LHON Reported 87 0.1406 114 7305 A C M468L + - Prostate Cancer Reported 0 0.0000 495 7379 G A L492L - + Possible association with sepsis Reported 23 0.0372 282 7402 C : frameshift - + Isolated complex IV deficiency Reported 0 0.0000 87 7443 A G Term514G + - DEAF Reported [VUS] 1 0.0016 21 7444 G A Term514K + - LHON / SNHL / DEAF modulator Reported [LB] 223 0.3604 134 7445 A G + + SNHL Cfrm [P] 8019558, 7987332, 7994888, 9247714, 9450881, 9742104, 10936107, 10220138, 18674747, 29253894, 31965079, 12655418, 10905659, 10577941, 8572257, 15126302, 15694374, 10760311, 16361254, 11691920, 15477393, 18402672, 16132471, 11175301, 10633132, 18537605, 18639500, 11215518, 15292920, 20064630, 17489842, 21621438, 29605341, 29921456, 29934116, 25968158, 32169613, 22538251, 22567359, 15987292, 11069477, 15620132, 16092542, 23525847, 30035268 1 0.0016 581 7445 A T Term514S + - SNHL Reported [VUS] 4 0.0065 166 7445 A T + - SNHL Reported [VUS] 18639500 4 0.0065 88 7445 A C Term514S + - DEAF Reported [VUS] 17 0.0275 89 7445 A G Term514Term + + SNHL Cfrm [P] 1 0.0016 133 7445 A C + - DEAF Reported [VUS] 29253894, 10577941, 16361254, 18402672, 10739773, 18639500, 17659260, 20064630, 19705751, 25968158, 32169613 17 0.0275 296 7451 A T - + CPEO+ptosis Reported 23696415 0 0.0000 282 7453 G A + + Fatal neonatal lactic acidosis / Neonatal lactic acidosis, exercise intolerance, mild ID Cfrm [LP] 22453297, 24667782, 32313153, 33279600 0 0.0000 174 7456 A G + - DEAF Unclear 15292920 15 0.0242 230 7458 G A - + PEO Reported 20186009 0 0.0000 243 7462 C T + - DEAF Reported [VUS] 20722495 5 0.0081 65 7471 C CC + + PEM / AMDF / Motor neuron disease-like Cfrm [P] 7581383, 9708714, 9778262, 9832034, 9778273, 11378827, 11919191, 10220138, 20722495, 23847141, 31965079, 34969639, 10094190, 10905659, 15126302, 15382008, 10760311, 15477393, 16368237, 15833431, 15482956, 18398437, 10545608, 18977334, 17637808, 11215518, 15292920, 20064630, 17489842, 19718780, 22538251, 32504279, 34467602, 38465286 7 0.0113 413 7471 C : nr nr Maternally inherited hypertension / deafness Reported [VUS](=7466d) 25968158, 31776834, 32169613 30 0.0485 309 7472 A CA + + PEM / AMDF / Motor neuron disease-like See 7471insC 0 0.0000 157 7472 A C + + MM / DMDF modulator Reported 16368237, 15833431, 18398437, 22538251 10 0.0162 423 7474 A G nr nr Hearing loss patient Reported 32169613 5 0.0081 414 7474 A : nr nr Hearing loss and epilepsy Reported (=7474d) 19073569 4 0.0065 112 7480 T G - + MM Reported 15210164, 15477393, 19718780 0 0.0000 471 7484 A G + - MERRF Reported 0 0.0000 338 7486 G A - + CPEO Reported 29398297 0 0.0000 313 7492 C T + - Hypertension / hearing loss risk factor Reported 26782414, 32377700 10 0.0162 415 7496 T C nr nr Hearing Loss Reported 28027978, 25968158 3 0.0048 66 7497 G A + + MM / EXIT Cfrm [LP] 9778262, 29253894, 31965079, 14605505, 15477393, 16199753, 20064630, 22781547 1 0.0016 310 7501 T A nr nr Cardiovascular disease; renal disease patient Reported 24491108, 25088491, 23735083 1 0.0016 405 7502 C T nr nr Reported in tic disorder patient Reported [VUS] 33289513 4 0.0065 207 7505 T C + - Maternally inherited hearing loss Reported [VUS] 20153673, 30336267, 25968158, 32169613, 22538251, 33638616 0 0.0000 147 7506 G A - + PEO with hearing loss Reported 17614276 0 0.0000 67 7510 T C - + SNHL Cfrm [LP] 10978361, 12471220, 10905659, 15126302, 16361254, 18252214, 11215518, 15292920, 20064630, 17489842, 22781547, 23430555, 29299381, 32970680 1 0.0016 68 7511 T C + + SNHL/Deafness Cfrm [LP] 10371545, 12461693, 31965079, 10905659, 14960712, 15126302, 15670746, 10760311, 16361254, 15477393, 18340555, 12172268, 17637808, 11215518, 15292920, 20064630, 17489842, 29257206, 28320335, 26279247, 25968158, 32169613, 22538251 2 0.0032 69 7512 T C + + PEM / MERME / MELAS Cfrm [LP] 7669057, 9778262, 9832034, 31965079, 15126302, 16361254, 15477393, 16199753, 11215518, 15292920, 20064630, 17894844 0 0.0000 395 7519 A : nr nr Deafness-associated Reported 33045734, 32169613 5 0.0081 164 7520 G A nr nr Sporadic bilateral optic neuropathy Reported 31965079, 18676632 0 0.0000 185 7526 A G - + Mitochondrial myopathy Reported [VUS] 16059939 0 0.0000 323 7539 C T - + Multisystemic mitochondrial disorder Reported 31965079, 25447692 0 0.0000 70 7543 A G - + MEPR Reported 10488907, 27119776, 32970680 52 0.0840 362 7551 A G + - DEAF increased penetrance (1555G helper) Reported 30592262, 27544295, 27536005, 32169613, 37789629 2 0.0032 297 7554 G A - + Myopathy+ataxia+nystagmus+migraines+lactic acidosis Reported 23696415, 32970680 0 0.0000 480 7560 T C - + Focal segmental glomerulosclerosis (FSGS) with cortical blindness + pancreatitis Reported 39056263 0 0.0000 380 7566 G A nr nr Unspecified patient from clinical lab Reported [VUS] 31965079 0 0.0000 22 7587 T C M1T - + Mitochondrial Encephalomyopathy Cfrm [LP] 0 0.0000 269 7598 G A A5T - + Possible LHON helper variant Reported 650 1.0504 146 7623 C T T13I + - LHON Reported 0 0.0000 391 7630 T : frameshift - + MELAS Reported 0 0.0000 193 7637 G A E18K - + PD risk factor / neurological impairment Reported [VUS] 2 0.0032 23 7671 T A M29K - + MM Reported [VUS] 0 0.0000 413 7695 T C L37P - + Cerebellar and pyramidal syndrome with cognitive impairment Reported 0 0.0000 262 7697 G A V38I + - Possible HCM susceptibility, high altitude adaptation Reported 311 0.5026 224 7706 G A A41T + + Alpers-Huttenlocher-like Reported 11 0.0178 496 7749 T C I55T - + Possible association with sepsis Reported 2 0.0032 161 7859 G A D92N + - Progressive Encephalomyopathy Reported 173 0.2796 198 7868 C T L95F + - LHON Reported - possibly synergistic 14 0.0226 175 7877 A C K98Q + - PEG glaucoma Reported 0 0.0000 543 7887 G A G101D - + Cerebellar ataxia + neuropathy + exercise intolerance Reported 0 0.0000 24 7896 G A W104Term - + Multisystem Disorder Cfrm [P] 0 0.0000 497 7943 T C S120P - + Possible association with sepsis Reported 0 0.0000 390 7965 T C F127S . + Hepatic failure / COX deficiency Reported 1 0.0016 139 7970 G T E129Term - + Encephalopathy Reported 0 0.0000 92 7989 T C L135P - + Rhabdomyolysis Reported [VUS] 0 0.0000 273 8010 T C V142A - + Developmental delay, ataxia, seizure, hypotonia, lactic acidosis Reported 2 0.0032 285 8021 A G I146V + - Asthenozoospermia Reported 4 0.0065 25 8042 AT : frameshift - + Lactic Acidosis Reported [VUS] 0 0.0000 199 8078 G A V165I + - DEAF Reported 28 0.0452 380 8088 T : frameshift - + Mitochondrial myopathy with complex IV deficiency Cfrm [LP] 0 0.0000 94 8108 A G I175V + - SNHL Reported 76 0.1228 367 8119 T : frameshift - + Biliary atresia Reported 0 0.0000 341 8156 G : frameshift - + Multi-system mitochondrial disorder Reported 0 0.0000 575 8163 A G Y193C - + Late-onset cerebellar ataxia Reported 0 0.0000 574 8231 C A L216M - + Coronary artery disease risk factor Reported 0 0.0000 362 8241 T G F219C - + MIDD+retinopathy Conflicting reports 0 0.0000 347 8249 G A G222Term + - Mitochondrial myopathy Reported 0 0.0000 71 8296 A G + + DMDF / MERRF / HCM / epilepsy / hearing loss Reported [VUS] 9571188, 9802769, 9932960, 10220138, 11406419, 29253894, 31965079, 12504210, 15126302, 15477393, 15100439, 18651333, 10525672, 15554876, 10737988, 11857739, 19370763, 24689073, 32970680, 32169613, 37573175, 20143911 38 0.0614 321 8299 G A - + PEO + respiratory impairment Reported [VUS] 31965079, 22326363 0 0.0000 72 8302 A T + - Encephalopathy Unclear 11335700 0 0.0000 298 8304 G A - + Epilepsy+ataxia+visual disturbance+deafness Reported 23696415 0 0.0000 365 8305 C T - + Mitochondrial myopathy Reported 29174468, 29472063, 29482911, 29467576 0 0.0000 308 8306 T C - + Severe adult-onset multisymptom myopathy / Myoclonic epilepsy Cfrm [VUS*] 23847141, 22925535, 29663531 0 0.0000 260 8311 T C + - Poss. hypertension factor Reported 31965079, 19778529 68 0.1099 73 8313 G A - + MNGIE-like / Progressive mito cytopathy Cfrm [LP] 9380435, 29253894, 12737626, 15477393, 15100439, 17620140, 19618438, 35778412, 34557026 1 0.0016 468 8315 A C - + MERRF Reported 35886028 0 0.0000 132 8316 T C - + MELAS Reported 15477393, 15100439, 10996780 0 0.0000 291 8319 A G - + Kearns-Sayre syndrome Reported [VUS] 31965079, 23463613 0 0.0000 118 8326 A G - + Mitochondrial Cytopathy Reported 12406974, 12400067, 15477393 0 0.0000 74 8328 G A - + Mito Encephalopathy / EXIT with myopathy and ptosis Reported 10090475, 15477393, 15100439, 17410322, 19718780, 32970680 0 0.0000 242 8332 A G + - Dystonia and stroke-like episodes Reported 19930207 0 0.0000 261 8337 T C + - Poss. hypertension factor Reported 31965079, 19778529 175 0.2828 424 8339 A G nr nr Hearing loss patient Reported 32169613 1 0.0016 232 8340 G A - + Myopathy, Exercise Intolerance, CPEO-like /childhood epilepsy with SNHL & eye disease Cfrm [LP] 28729369, 34969639, 19941338, 23376095, 23838278, 24161205, 29501485, 32970680, 36982871, 36999085, 34969639 0 0.0000 75 8342 G A - + PEO and Myoclonus Reported [VUS] 10220860, 15477393, 15100439, 19718780, 32970680 0 0.0000 171 8343 A G + - Metabolic syndrome and polycystic ovary syndrome / possible PD risk factor / deafness Reported 19076426, 31965079, 29155328, 30194987, 25968158, 32400865 66 0.1067 76 8344 A G - + MERRF; Other - LD / depressive mood disorder / leukoencephalopathy / HiCM / lipomas Cfrm [P] 1678125, 8041403, 8198140, 8454287, 8386419, 8388680, 8513395, 1674297, 1606473, 8447321, 1709275, 1487239, 8492942, 8428629, 1910259, 8228033, 1324294, 1661776, 2112427, 1962048, 8170567, 1431990, 8133313, 1910341, 8006688, 3180221, 8139569, 2124116, 1899320, 1334369, 7850981, 7837776, 7647790, 7603535, 1463006, 7603509, 7739567, 7882812, 7603536, 9365365, 9541428, 9384601, 9798744, 9883816, 9818878, 9851442, 8602753, 10426322, 11160915, 8622733, 10862082, 10675533, 10939569, 10611124, 11335700, 11074292, 16947981, 15619607, 15317755, 15164143, 15683723, 17236134, 17886296, 17053148, 18674747, 16483543, 16815877, 16120315, 22411789, 23390135, 23297368, 25192510, 25652200, 26995359, 26404827, 29253894, 30674338, 31965079, 34146515, 34969639, 12471464, 12661941, 12876264, 14639582, 14748908, 15893315, 15477393, 15100439, 10699170, 10942580, 17275787, 17653689, 7565871, 7735877, 17989367, 15466086, 8809026, 18319067, 18647627, 19370763, 16326995, 19266142, 19486129, 10753928, 20064630, 19941338, 20123042, 20581069, 18848389, 21473984, 8559379, 21935892, 19718780, 22577219, 22249460, 23376095, 23838278, 10716764, 24642831, 22781547, 29288969, 29139113, 23006856, 29390138, 30146801, 31178486, 31178476, 29650490, 31345444, 17323145, 24961732, 28754700, 30797798, 22538251, 25559684, 32504279, 24931247, 35922766, 36675808, 36744444, 28716227, 31665838, 36928678, 23257519, 37038312, 37439868, 37737178, 23635963, 37988592, 38465286, 39380483, 32818253, 34536563 4 0.0065 388 8346 C : nr nr Rett Syndrome Reported 32105570 7 0.0113 262 8347 A G + - Poss. hypertension factor Reported 31965079, 19778529, 24689073 20 0.0323 77 8348 A G + + Cardiomyopathy / SNHL / poss. hypertension factor Reported 11446509, 31965079, 15477393, 15100439, 18252214, 16337222, 20064630, 19778529, 20111055 138 0.2230 78 8355 T C - + Myopathy Reported 11335700, 15477393 0 0.0000 79 8356 T C - + MERRF Cfrm [LP] 1361099, 8069654, 7739567, 16483543, 25192510, 31965079, 15477393, 15100439, 16132471, 20064630, 20610441, 22538251 0 0.0000 376 8357 T C - + Multiple symmetric lipomatosis Reported 31912494 1 0.0016 102 8361 G A - + MERRF Reported [VUS] 25192510, 14681892, 15477393 0 0.0000 80 8362 T G - + Myopathy / ataxia deafness diabetes mellitus Reported [VUS] 11335700, 23847141, 31965079, 15477393, 15100439, 29663531 0 0.0000 81 8363 G A - + MICM+DEAF / MERRF / Autism / Leigh Syndrome / Ataxia / Lipomatosis Cfrm [LP] 8651277, 9052804, 9932960, 21263444, 25192510, 31965079, 10868777, 11108511, 15477393, 15100439, 18176892, 18319067, 15554876, 10102446, 19278689, 19370763, 16326995, 20064630, 19718780, 29983856, 25909222, 22538251, 35821181, 39600123 0 0.0000 171 8381 A G T6A + - MIDD / LVNC cardiomyopathy-assoc. Reported 17 0.0275 551 8382 C T T6I - + Suspected mito disease / optic neuropathy Reported 9 0.0145 254 8393 C T P10S - + Reversible brain pseudoatrophy Reported 311 0.5026 278 8403 T C I13T + - Episodic weakness and progressive neuropathy Reported 4 0.0065 251 8411 A G M16V + - Severe mitochondrial disorder Reported 2 0.0032 405 8412 T C M16T + - Possible LHON helper mutation Reported 20 0.0323 258 8414 C T L17F + - Increased risk of T2DM and high altitude polycythemia (HAPC) in haplogroup D4 / Longevity Reported 2316 3.7425 478 8418 T C L18P + - Severe bilateral optic neuropathy Reported [VUS] 1 0.0016 552 8424 T C L20P nr nr Suspected mito disease Reported 0 0.0000 311 8481 C T P39L + - Tetralogy of Fallot patient Reported 10 0.0162 382 8490 T C M42T + - Peripheral neuropathy of T2DM Reported 24 0.0388 305 8519 G A E52K + - Possible susceptibility to bullous pemphigoid Reported 160 0.2586 314 8527 A G ATP8:K54K ATP6:M1M + - Neuromuscular disorder, possible helper mutation Reported 245 0.3959 233 8528 T C ATP8:W55R ATP6:M1T + + Infantile cardiomyopathy / hyperammonemia Cfrm [LP] 0 0.0000 234 8529 G A ATP8:W55Term ATP6:M1M + - Apical HCM Reported [VUS] 0 0.0000 406 8551 T C ATP8:H62H ATP6:F9L + - Possible LHON helper mutation Reported 18 0.0291 229 8558 C T ATP8:P65S ATP6:A11V + - Possibly LVNC cardiomyopathy-associated Reported 15 0.0242 399 8561 C T ATP8:P66S ATP6:P12L - + Ataxia w psychomotor delay Reported 0 0.0000 318 8561 C G ATP8:P66A ATP6:P12R + + Ataxia w neuropathy, DM, SNHL, and hypogonadism Reported 0 0.0000 539 8572 G A ATP8:Term69Term ATP6:G16S + - Spinocerebellar ataxia Reported 218 0.3523 458 8573 G A G16D + - Patient with suspected mitochondrial disease Reported by paper as Benign 66 0.1067 540 8578 C T P18S + - Spinocerebellar ataxia Reported 31 0.0501 424 8597 T C I24T - + Leigh Syndrome Reported 16 0.0259 498 8606 C T P27L - + Possible association with sepsis Reported 0 0.0000 459 8608 C T P28S + - Patient with suspected mitochondrial disease Reported 1 0.0016 342 8611 C CC frameshift - + Ataxia, microcephaly, developmental delay, intellectual disability Reported 0 0.0000 460 8612 T C L29P + - Arm and leg weakness, incontinence, developmental delay, autism, epilepsy Reported 0 0.0000 344 8618 T TT frameshift - + NARP/cognitive decline+abnormal brain MRI+impaired kidney function Cfrm [LP] 0 0.0000 483 8639 T C I38T + - Possible LHON modulator Reported 26 0.0420 244 8668 T C W48R + - LHON Reported 36 0.0582 421 8691 A G K55K nr nr Infantile mito disease w subclinical hypothyroidism Reported 7 0.0113 270 8719 G A G65Term - + Suspected mito disease Reported [VUS] 0 0.0000 461 8723 G T R66L 99% - Patient with suspected mitochondrial disease Reported 0 0.0000 226 8741 T G L72R - + MILS protective factor Reported 0 0.0000 593 8777 T C L84P - + Adult-onset cerebellar ataxia  Reported 0 0.0000 484 8779 C T L85F + - Possible LHON modulator Reported 1 0.0016 449 8782 G A G86Term - + Cerebellar ataxia+diabetes+kidney disease / ataxia+myoclonic epilepsy Reported 0 0.0000 534 8783 G A G86E nr nr Unspecified suspected mitochondrial disorder Reported [VUS] 1 0.0016 159 8794 C T H90Y + - Exercise Endurance / Coronary Atherosclerosis risk Reported 1764 2.8505 227 8795 A G H90R - + MILS protective factor Reported 0 0.0000 553 8806 C G P94A nr nr Suspected mito disease Reported 0 0.0000 541 8812 A G T96A - + Spinocerebellar ataxia Reported 77 0.1244 351 8821 T G S99A nr nr Possible LHON helper variant Reported 0 0.0000 147 8836 A G M104V + - LHON Reported 169 0.2731 423 8839 G C A105P - + NARP syndrome Reported [VUS] 0 0.0000 462 8843 T C I106T + - Patient with suspected mitochondrial disease Reported by paper as Likely Benign 217 0.3507 145 8851 T C W109R + + BSN / Leigh syndrome Cfrm [VUS*] 4 0.0065 594 8879 G T R118L - + Adult-onset cerebellar ataxia - possible helper mutant for m.8777C Reported 0 0.0000 463 8881 T C S119P nr nr Patient with suspected mitochondrial disease Reported 3 0.0048 320 8890 A G K122E - + Juvenile-onset metabolic syndrome Reported 0 0.0000 554 8902 G A A126T nr nr Suspected mito disease Reported 9 0.0145 542 8909 T C F128S + - Recurrent severe kidney disease and multiple systemic dysfunctions Reported 0 0.0000 464 8921 G A G132D + - Patient with suspected mitochondrial disease Reported 9 0.0145 100 8932 C T P136S + - Prostate tumor / Neuromuscular disorder Reported [B] 245 0.3959 420 8936 T A L137H - + Atypical Leigh syndrome Reported [VUS] 1 0.0016 465 8938 A G I138V + - Patient with suspected mitochondrial disease Reported 46 0.0743 134 8950 G A V142I + - LDYT / Spinocerebellar Ataxia Reported 84 0.1357 515 8951 T C V142A nr nr Patient with ataxia Reported 9 0.0145 369 8959 G A E145K + + Developmental delay, intellectual disability, low citrilline Reported 4 0.0065 319 8969 G A S148N - + Mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) / IgG nephropathy Cfrm [LP] 1 0.0016 555 8969 G C S148T nr nr Suspected mito disease Reported 0 0.0000 556 8975 T C L150P nr nr Suspected mito disease Reported 23 0.0372 422 8989 G C A155P - + NARP syndrome Reported 0 0.0000 26 8993 T G L156R + + NARP / Leigh Disease / MILS / other Cfrm [P] 6 0.0097 526 8993 TG CA L156P + + Developmental delay & myopathy Cfrm [LP] 0 0.0000 27 8993 T C L156P - + NARP / Leigh Disease / MILS / other Cfrm [P] 2 0.0032 466 8999 T C V158A + - Patient with suspected mitochondrial disease Reported 9 0.0145 557 9008 C G T161S nr nr Suspected mito disease Reported 2 0.0032 387 9010 G A A162T - + Unspecified neurological disorder Reported 28 0.0452 124 9016 A G I164V - + LHON Reported 13 0.0210 388 9017 T C I164T - + Unspecified neurological disorder Reported 14 0.0226 558 9019 A G T165A nr nr Suspected mito disease Reported 0 0.0000 358 9025 G A G167S + - Motor neuropathy, Leigh-like, colon cancer Reported [VUS] 45 0.0727 467 9026 G A G167D - + Spinocerebellar ataxia / patient with suspected mitochondrial disease Reported [VUS] 3 0.0048 359 9029 A G H168R + + LHON-like Reported 1 0.0016 360 9032 T C L169P - + NARP / Complex phenotype with microcephaly, ataxia, hearing loss, lactic acidosis Reported [VUS] 0 0.0000 222 9035 T C L170P + + Ataxia syndromes Cfrm [LP] 0 0.0000 468 9041 A G H172R - + Patient with suspected mitochondrial disease Reported 52 0.0840 535 9049 G A G175Term nr nr Unspecified suspected mitochondrial disorder Reported [VUS] 0 0.0000 221 9055 G A A177T + - PD protective factor Reported 2573 4.1578 230 9058 A G T178A + - Patients with (1) LVNC cardiomyopathy; (2) autism, intellectual disability, epilepsy Reported as (1) possible association or as (2) benign 39 0.0630 306 9071 C T S182L + - Potentially functional variant cosegregating with LHON3635A Reported 16 0.0259 469 9088 T C S188P - + Patient with suspected mitochondrial disease Reported by paper as Likely Benign 25 0.0404 228 9098 T C I191T + - Predisposition to anti-retroviral mito disease Reported 67 0.1083 28 9101 T C I192T + - LHON Reported 63 0.1018 470 9115 A G I197V + - Patient with suspected mitochondrial disease Reported 27 0.0436 343 9127 AT : IL-PTerm - + NARP Reported 0 0.0000 471 9133 G A E203K + - Patient with suspected mitochondrial disease Reported 4 0.0065 338 9134 A G E203G nr nr Hypotonia, lactic acidosis, HCM, IUGR Reported [VUS] 0 0.0000 173 9139 G A A205T + - LHON Reported - possibly synergistic 51 0.0824 472 9152 T C I209T - + Patient with suspected mitochondrial disease Reported [VUS] 17 0.0275 545 9154 C T Q210Term - + Peripheral neuropathy ataxia IgA nephropathy Reported 0 0.0000 392 9155 A G Q210R - + MIDD, renal insufficiency Cfrm [LP] 0 0.0000 370 9155 A T Q210L + + Developmental delay, intellectual disability, low citrilline Reported 0 0.0000 431 9166 T C F214L + + EXIT+more / bilateral optic neuropathy Reported 0 0.0000 30 9176 T G L217R + + Leigh Disease / Spastic Paraplegia / Spinocerebellar Ataxia Cfrm [LP] 1 0.0016 29 9176 T C L217P + + FBSN / Leigh Disease / Spinocerebellar Ataxia Cfrm [P] 3 0.0048 132 9185 T C L220P + + Leigh Disease / Ataxia syndromes / NARP-like disease / Episodic weakness and Charcot-Marie-Tooth Cfrm [P] 3 0.0048 133 9191 T C L222P - + Leigh Disease Cfrm [LP] 0 0.0000 83 9205 TA : Term-M + - Encephalopathy / Seizures / Lacticacidemia Cfrm [LP] 0 0.0000 479 9237 G A V11M na na Mitochondrial Respiratory Chain Disorder Reported [VUS] 0 0.0000 583 9247 G C S14T nr nr MELAS Reported 0 0.0000 499 9266 G T G20G - + Possible association with sepsis Reported 1 0.0016 304 9267 G C A21P - + MIDD Reported 0 0.0000 414 9331 T C L42P + - Failure to thrive with metabolic acidosis, cognitive impairment, optic atrophy Reported 1 0.0016 188 9379 G A W58Term - + MM w lactic acidosis Reported [VUS] 0 0.0000 286 9387 G A V61M - + Asthenozoospermia Reported 0 0.0000 516 9399 A G S65G nr nr Patient with epilepsy, myopathy, hypoacusis, psychiatric disorders Reported 1 0.0016 500 9403 C A T66K - + Possible association with sepsis Reported 0 0.0000 501 9415 A G H70R - + Possible association with sepsis Reported 0 0.0000 31 9438 G A G78S + - LHON / gout Conflicting reports 778 1.2572 407 9444 C T R80W + - Possible LHON helper mutation Reported 1 0.0016 250 9478 T C V91A - + Leigh Disease Reported [VUS] 22 0.0356 144 9480 TTTTTCTTCGCAGGA : FFFAG-del - + Myoglobinuria Cfrm [LP], alt locus at 9487del15 0 0.0000 377 9487 TCGCAGGATTTTTCT : FFAGFF-del - + Myoglobinuria alt loc to 9480del15 [LP] 0 0.0000 379 9490 C T A95V + - Gout Reported 24 0.0388 32 9537 C CC frameshift + - Leigh Disease Cfrm [LP] 0 0.0000 187 9544 G A G113E nr nr Sporadic bilateral optic neuropathy Reported 0 0.0000 576 9553 G A W116Term - + Adult-onset MELAS Reported 0 0.0000 264 9559 C : frameshift - + Rhabdomyolysis Reported 0 0.0000 148 9660 A C M152L + - LHON Reported 0 0.0000 33 9738 G T A178S + - LHON Reported 0 0.0000 140 9789 T C S195P - + Myopathy Reported 0 0.0000 34 9804 G A A200T + + LHON / MS Reported [VUS] 183 0.2957 378 9856 T C I217T + - LVNC cardiomyopathy / gout Reported 21 0.0339 155 9861 T C F219L + - AD Reported 128 0.2068 567 9907 G A G234D - + Cavitating leukodystrophy Reported 0 0.0000 408 9921 G A A239T + - Possible LHON helper mutation Reported 67 0.1083 35 9952 G A W249Term - + Mitochondrial Encephalopathy Cfrm [LP] 0 0.0000 36 9957 T C F251L - + PEM / MELAS / NAION / HCM / gout Reported 50 0.0808 352 9966 G A V254I nr nr LHON possible helper variant Reported 404 0.6528 219 9972 A C I256L - + EXIT & APS2 - possible link Reported 2 0.0032 525 9984 G A G260Term nr nr Suspected mito disease Reported 0 0.0000 377 9997 T A nr nr Unspecified patient from clinical lab Reported [VUS] 31965079 0 0.0000 82 9997 T C - + MHCM Reported [VUS] 8079988, 10090480, 29253894, 15477393, 20064630 1 0.0016 470 10000 G A - + Multisystem mitochondrial disorder Reported 35432167 1 0.0016 372 10003 T C + - Hypertension / maternally inherited diabetes / hearing loss Reported 31965079, 27544295, 26134044, 32169613, 25615420 12 0.0194 425 10005 A G nr nr Hearing loss patient Reported 31965079, 24470521, 32169613 22 0.0356 83 10006 A G + - CIPO / Encephalopathy Unclear 1709275, 8129854, 11335700, 31965079, 15477393 16 0.0259 84 10010 T C - + PEM Cfrm [VUS*] 9199564, 17886296, 23847141, 25652200, 16120360, 11971101, 15477393, 10611123, 20064630, 26469001, 32948797 0 0.0000 85 10014 G A + - Myopathy Unclear 11335700, 31965079 0 0.0000 426 10019 C T nr nr Hearing loss patient Reported 32169613 0 0.0000 86 10044 A G - + SIDS Unclear 8888049, 12160969, 16947981, 16773565, 29253894, 31965079, 15477393, 10598821, 15466077 185 0.2990 406 10055 A G nr nr Tic disorder patient / hearing loss patient Reported 31965079, 23463613, 33289513, 32169613 12 0.0194 428 10057 T C nr nr Hearing loss patient Reported 32169613 6 0.0097 277 10086 A G N10D + - Hypertensive end-stage renal disease Reported 466 0.7530 403 10134 C A Q26K - + Leigh Disease Reported [VUS] 0 0.0000 426 10142 C T N28N nr nr Recurrent pregnancy loss Reported 702 1.1344 82 10158 T C S34P + + Leigh Disease / MELAS Cfrm [P] 0 0.0000 415 10189 T C M44T - + Behavior alteration with dilated cardiomyopathy Reported 1 0.0016 37 10191 T C S45P - + Leigh Disease / ESOC Cfrm [P] 0 0.0000 157 10197 G A A47T + + Leigh Disease / Dystonia / Stroke / LDYT Cfrm [P] 3 0.0048 577 10197 G C A47P - + Leigh Disease Reported 0 0.0000 136 10237 T C I60T + - LHON Reported 100 0.1616 303 10254 G A D66N - + Leigh Disease Cfrm [LP] 0 0.0000 521 10350 C A L98M + - LHON Reported 0 0.0000 592 10372 A G E105G - + Sensorimotor axonal polyneuropathy Reported 0 0.0000 128 10398 A A T114T + - Invasive Breast Cancer risk factor AD PD BD lithium response Type 2 DM Reported; lineage N marker except hg IJK 35453 57.2904 165 10398 A G T114A + - PD protective factor / longevity / altered cell pH / metabolic syndrome / breast cancer risk / Leigh Syndrome risk / ADHD / cognitive decline / SCA2 age of onset / Fuchs endothelial corneal dystrophy Reported; lineage L & M marker, also hg IJK 26384 42.6353 150 10406 G A - + Mitochondrial myopathy Reported [VUS] 21263444, 31965079, 17588757 0 0.0000 381 10408 T C nr nr Unspecified patient from clinical lab Reported [VUS] 31965079 0 0.0000 474 10410 T C + - Possible maternally inherited hypertension risk factor Reported 33625761 284 0.4589 354 10411 A T + - Dilated Cardiomyopathy Reported 9344764 0 0.0000 355 10415 T C + - Dilated Cardiomyopathy Reported 9344764 0 0.0000 277 10437 G A - + Mitochondrial myopathy Reported 22781096 0 0.0000 146 10438 A G - + Progressive Encephalopathy Reported [VUS] 15286228 0 0.0000 398 10438 A T - + Non-dystrophic myopathy Reported 30430429 0 0.0000 280 10450 A G - + Combined OXPHOS defects & severe multisystem disorder Reported [VUS] 19809478 0 0.0000 181 10454 T C + - Possible deafness or maternally inherited hypertension risk factor Reported 27498855, 31965079, 16955413, 19818876, 22538251, 33625761 231 0.3733 382 10460 T C nr nr Unspecified patient from clinical lab Reported [VUS] 31965079 0 0.0000 149 10543 A G H25R - + LHON Reported 0 0.0000 150 10591 T G F41C - + LHON Reported 0 0.0000 522 10609 T C M47T nr nr Type 2 diabetes patients with underlying 3243G / LHON patient with 10663C Reported 1505 2.4320 202 10652 T C I61I - + BD / MDD-associated Reported 56 0.0905 38 10663 T C V65A + - LHON Cfrm [LP] 2 0.0032 523 10676 C G C69W nr nr Type 2 cataract patients with underlying 3243G Reported 1 0.0016 197 10680 G A A71T + - LHON / synergistic combo 10680A + 12033G + 14258A Reported / possibly synergistic 18 0.0291 364 11042 T C Y95H - + Biliary atresia Reported 0 0.0000 365 11048 T : frameshift - + Biliary atresia Reported 0 0.0000 39 11084 A G T109A + + AD, PD MELAS Conflicting reports 224 0.3620 450 11150 G A A131T + - Found in a Multiple Sclerosis patient Reported 156 0.2521 78 11232 T C L158P - + CPEO Reported 0 0.0000 322 11240 C T L161F - + Leigh Syndrome Reported 0 0.0000 397 11251 A G L164L nr nr Reduced risk of PD Reported 6026 9.7377 143 11253 T C I165T + - LHON PD Reported 324 0.5236 260 11365 T C A202A + - found in HCM patient Reported 142 0.2295 309 11375 A C K206Q + - found in sCJD patient Reported 0 0.0000 488 11406 T A L216H - + MELAS Reported 0 0.0000 211 11467 A G L236L + - Altered brain pH / sCJD patients Reported [B] 7930 12.8145 346 11470 A C K237N - + MELAS Reported 0 0.0000 451 11519 A C T254P + - ND4 mutation set found in a Multiple Sclerosis patient Reported 0 0.0000 452 11523 A C K255T + - ND4 mutation set found in a Multiple Sclerosis patient Reported 0 0.0000 453 11527 C T H256H + - ND4 mutation set found in a Multiple Sclerosis patient Reported 25 0.0404 275 11621 TA : frameshift - + CPEO, exercise intolerance Reported [VUS] 0 0.0000 40 11696 G A V313I + + LHON / LDYT / DEAF / hypertension helper mut. Reported / possibly synergistic 366 0.5914 77 11777 C A R340S - + Leigh Disease Cfrm [LP] 0 0.0000 41 11778 G A R340H + + LHON / Progressive Dystonia Cfrm [P] 190 0.3070 42 11832 G A W358Term - + EXIT / oncocytoma Reported 0 0.0000 151 11874 C A T372N + - LHON Reported 0 0.0000 560 11914 G A T385T nr nr Possible susceptibility to bullous pemphigoid Reported 6481 10.4730 119 11919 C T S387F + - Thyroid Cancer Cell Line Reported 1 0.0016 371 11984 T C Y409H + - Leigh Syndrome Reported 63 0.1018 178 11994 C T T412I + - Oligoasthenoteratozoospermia (OAT) Conflicting reports 0 0.0000 389 12015 T C L419P - + Atypical MELAS Reported 3 0.0048 43 12026 A G I423V + - DM Reported 270 0.4363 213 12027 T C I423T nr nr SZ-associated Reported 2 0.0032 348 12033 A G N425S + - LHON synergistic combo 10680A + 12033G + 14258A Reported: individually neutral variants causing LHON in combination 22 0.0356 427 12063 C T T435I nr nr Recurrent pregnancy loss Reported 39 0.0630 407 12141 A G nr nr Reported in tic disorder patient Reported 33289513 9 0.0145 316 12146 A G + + MELAS Reported 21704194 0 0.0000 108 12147 G A - + MERRF-MELAS / Encephalopathy Cfrm [LP] 16483543, 31965079, 14967777, 15111688, 20064630, 19718780 0 0.0000 292 12148 T C - + Developmental delay, optic atrophy, cataract, hearing loss, myopathy Reported [VUS] 31965079, 23463613, 37961166 1 0.0016 463 12158 A G - + MELAS Reported 35092007, 24931247 0 0.0000 429 12167 T C nr nr Hearing loss patient Reported 32169613 2 0.0032 385 12182 A G + - Sclerosis-like symptoms + white matter alterations Author considered as VUS 30831263 2 0.0032 87 12183 G A - + RP + DEAF Reported [VUS] 12682337, 29253894, 19718780 1 0.0016 307 12187 C A + - Asthenozoospermia Reported 24931671 0 0.0000 430 12188 T C nr nr Hearing loss patient Reported 31965079, 16738010, 32169613 31 0.0501 88 12192 G A + - MICM / possible G15927A deafness modulator Reported 10621222, 12560876, 31965079, 30854964, 33552719 132 0.2133 286 12201 T C - + Maternally inherited non-syndromic deafness Cfrm [LP] 31965079, 21931169, 23463613, 31819004, 24920829, 33064405, 32169613, 22538251, 34991096 1 0.0016 299 12206 C T - + MELAS-like encephalopathy+bilateral optic atrophy Reported 23696415 0 0.0000 137 12207 G A - + Myopathy / Encephalopathy Reported [VUS] 12406974, 16950817, 27450679, 36967720 0 0.0000 195 12224 C T + - DEAF helper mutation Reported 19818876, 22538251 4 0.0065 431 12235 T C nr nr Hearing loss patient Reported 31965079, 32169613 230 0.3717 180 12236 G A + - DEAF Reported 23563965, 23847141, 31965079, 17637808, 22241583 445 0.7191 89 12246 C A nr nr CIPO Reported 1709275, 8129854 4 0.0065 383 12258 C T nr nr Unspecified patient from clinical lab Reported [VUS] 31965079 0 0.0000 90 12258 C A - + DMDF / RP+SNHL Cfrm [LP] 9792552, 10090882, 11938495, 15983868, 25652200, 29253894, 15126302, 17653689, 19718780 1 0.0016 285 12261 T C - + Myopathy+epilepsy+retinal degeneration+DEAF Reported 22378285 0 0.0000 276 12262 C A - + Progressive MM+Deafness+Seizures Reported 21257182, 32504279 0 0.0000 275 12264 C T + + Multisystem Disease with Cataracts / Myopathy+epilepsy+DEAF+atypical autism Reported [VUS] 22369973, 31965079, 22378285, 23920046 0 0.0000 477 12271 T C nr nr Unspecified mitochondrial disease Reported [VUS] 0 0.0000 159 12276 G A - + CPEO Cfrm [LP] 23847141, 31965079, 15591266, 15649400 1 0.0016 476 12278 T C - + MODY diabetes mellitus Reported 31965079, 38397113, 30671084 1 0.0016 408 12279 A G nr nr Reported in tic disorder patient Reported 33289513 261 0.4218 360 12280 A G + - Hypertension Reported 31965079, 30783460 95 0.1535 236 12283 G A - + CPEO Reported [VUS] 25652200, 19853445 1 0.0016 341 12293 G A - + Axial mitochondrial myopathy / EXIT+myalgia+ptosis Reported 31965079, 25223649, 32419253 0 0.0000 101 12294 G A - + CPEO / EXIT+Ophthalmoplegia Cfrm [VUS*] 14581685, 29052516 0 0.0000 111 12297 T C + + Dilated Cardiomyopathy / Leigh Syndrome / Failure to Thrive & LA Reported 21882289, 31965079, 11313776, 20064630, 19062322, 10602359 50 0.0808 139 12299 A C - + MELAS Reported 17092464 0 0.0000 152 12300 G A - + 3243 suppressor mutant Reported 9537417, 9817933, 10628996, 15328906, 32970680, 22538251, 16446307 0 0.0000 91 12308 A G + + CPEO / Stroke / CM / Breast & Renal & Prostate Cancer Risk / Altered brain pH /sCJD Reported [B] in hg K,U 8155739, 1709275, 1757091, 8079988, 8254046, 1910259, 1542564, 9384601, 11145497, 11406419, 16947981, 16773565, 16406974, 19290059, 18502698, 24667788, 31965079, 14571278, 11313776, 18709563 7912 12.7854 92 12311 T C + + CPEO Reported 7525879, 7804130, 16947981, 31965079 74 0.1196 99 12313 T C - + FSHD Reported 18343111 0 0.0000 93 12315 G A - + CPEO / KSS / possible carotid atherosclerosis risk, trend toward myocardial infarction risk Cfrm [LP] 9361028, 8923013, 10332036, 31965079, 12398839, 18977334, 20064630, 19718780, 28951770, 23631826, 29670672, 23395464, 23874496, 25834827, 31540444 0 0.0000 165 12316 G A - + CPEO / mitochondrial myopathy Cfrm [VUS*] 23847141, 18603265, 20163808 0 0.0000 300 12317 T C - + CPEO+ptosis+myopathy+exercise intolerance+diabetes Reported 23696415 1 0.0016 94 12320 A G - + MM Reported [VUS] 9012410, 9207784, 17886296, 25652200, 10611123, 19718780, 23631826 0 0.0000 439 12325 C : nr nr Hearing loss patient Reported [VUS] 32169613 0 0.0000 442 12334 G A - + CPEO Reported 32310184 0 0.0000 384 12335 T C nr nr Unspecified patient from clinical lab Reported 31965079 0 0.0000 179 12338 T C M1T + - DEAF1555 increased penetrance / LHON / MIDD Conflicting reports 205 0.3313 548 12350 C A T5N - + SNHL + neurodevelopmental delay Reported 0 0.0000 265 12361 A G T9A + - Non-alcoholic fatty liver disease Reported 409 0.6609 210 12372 G A L12L + - Altered brain pH / sCJD patients; AD risk in certain haplogroups Reported [B] 8556 13.8261 255 12397 A G T21A + - PD, early onset Reported 380 0.6141 385 12414 T : frameshift nr nr EXIT Reported 0 0.0000 241 12425 A : frameshift - + Mitochondrial myopathy & renal failure Cfrm [LP] 2 0.0032 261 12477 T C S47S + - Possible HCM susceptibility Reported 318 0.5139 247 12622 G A V96I + + Leigh Disease Conflicting reports 10 0.0162 310 12631 T A S99T + - found in 2 sCJD patients Reported 0 0.0000 115 12634 A G I100V + + Thyroid Cancer Cell Line Reported 242 0.3911 428 12662 A G N109S nr nr Recurrent pregnancy loss Reported 83 0.1341 375 12686 T A F117Y + - Dilated Cardiomyopathy Reported 0 0.0000 448 12705 C T I123I nr nr Possible protective factor for normal tension glaucoma Reported 24619 39.7831 84 12706 T C F124L - + Leigh Disease Cfrm [LP] 0 0.0000 85 12770 A G E145G - + MELAS Reported [VUS] 1 0.0016 376 12778 G C G148R + - Dilated Cardiomyopathy Reported 0 0.0000 152 12782 T G I149S - + LHON Reported 0 0.0000 236 12811 T C Y159H + - Possible LHON factor Reported [B] 715 1.1554 587 12814 G T A160S + - LHON Reported 3 0.0048 129 12848 C T A171V - + LHON Reported [VUS] 0 0.0000 536 12858 C A Y174Term nr nr Unspecified suspected mitochondrial disorder Reported 0 0.0000 584 12923 G A W196Term nr nr LHON/MELAS/LS Reported 0 0.0000 433 12955 A G N207D - + EXIT and developmental delay Reported 0 0.0000 156 13042 G A A236T - + Optic neuropathy/ retinopathy/ LD Cfrm [LP] 2 0.0032 86 13045 A C M237L - + MELAS / LHON / Leigh overlap syndrome Reported [VUS] 1 0.0016 570 13045 A G M237V - + MELAS Reported 0 0.0000 345 13046 T C M237T - + LHON/MELAS overlap syndrome Cfrm [LP] 0 0.0000 126 13051 G A G239S + - LHON Cfrm [VUS*] 0 0.0000 163 13063 G A V243I - + Adult-onset Encephalopathy / Ataxia Reported [VUS] 2 0.0032 44 13084 A T S250C - + MELAS / Leigh Disease Reported [VUS] 0 0.0000 418 13091 T C M252T - + MELAS+Migraine Reported 0 0.0000 191 13094 T C V253A + + Ataxia+PEO / MELAS, LD, LHON, myoclonus, fatigue Cfrm [P] 1 0.0016 263 13135 G A A267T + - Possible HCM susceptibility Reported 589 0.9518 485 13138 G A E268K + - Possible LHON modulator Reported 0 0.0000 383 13204 G A V290I + - Peripheral neuropathy of T2 diabetes Reported 42 0.0679 276 13271 T C L312P - + Exercise intolerance (EXIT) Reported 1 0.0016 361 13276 A G M314V + - MIDD+retinopathy Conflicting reports 1662 2.6857 585 13289 G A G318D nr nr MELAS Reported 0 0.0000 518 13340 T C F335S + - LHON Reported 1 0.0016 487 13345 G A A337T + - LHON Reported 0 0.0000 419 13376 T C I347T + - MELAS w medial temporal lobe atrophy Reported 1 0.0016 519 13379 A G H348R + - LHON Cfrm [VUS*] 0 0.0000 153 13379 A C H348P + - LHON Reported [VUS] 0 0.0000 246 13511 A T K392M - + Leigh-like syndrome Reported 0 0.0000 45 13513 G A D393N - + Leigh Disease / MELAS / LHON-MELAS Overlap Syndrome / negative association w Carotid Atherosclerosis Cfrm [P] 1 0.0016 46 13514 A G D393G - + Leigh Disease / MELAS / Ca2+ downregulation Cfrm [LP] 0 0.0000 47 13528 A G T398A + - LHON-like, LHON, MELAS Reported [LB] 74 0.1196 564 13565 C T S410F + - Found in MELAS patient Reported 75 0.1212 116 13580 C G A415G - + Thyroid Cancer Reported 0 0.0000 475 13590 G A L418L nr nr Possible protective factor for high altitude sickness Reported 3341 5.3989 588 13615 A G I427V - + LHON Reported 9 0.0145 238 13637 A G Q434R + - Possible LHON factor Reported 595 0.9615 511 13702 C G R456G nr nr Possible LHON helper (one 14484 patient) Reported 20 0.0323 48 13708 G A A458T + + LHON / Increased MS risk / higher freq in PD-ADS Conflicting reports 4580 7.4011 512 13712 C T A459V nr nr Possible LHON helper (one 11778 patient) Reported 11 0.0178 49 13730 G A G465E - + LHON Reported [VUS] 0 0.0000 506 13759 G A A475T + - Possible LHON factor Reported 2179 3.5212 117 13831 C A L499M - + Thyroid Cancer Cell Line Reported 3 0.0048 192 13849 A C N505H + - MELAS Reported - possibly secondary 1 0.0016 580 13966 A G T544A + - Greater risk with hg X of end-stage kidney disease Reported 855 1.3816 239 13967 C T T544M + - Possible LHON factor Reported 184 0.2973 456 14002 A G T556A + - High altitude pulmonary edema susceptibility Reported 143 0.2311 307 14063 T C I576T + - Potentially functional variant cosegregating with LHON3635A Reported 24 0.0388 274 14091 A T K585N - + Developmental delay, seizure, hearing loss, diabetes Reported 0 0.0000 266 14163 C T A171T + - Possible deafness factor Conflicting reports 13 0.0210 429 14179 A G Y165Y nr nr Recurrent pregnancy loss Reported 325 0.5252 349 14258 G A P139L + - LHON synergistic combo 10680A + 12033G + 14258A also combo 14258A + 14582G Reported: individually neutral variants causing LHON in combination 31 0.0501 430 14263 C T E137E nr nr Recurrent pregnancy loss Reported 6 0.0097 125 14279 G A S132L + - LHON Reported 7 0.0113 256 14319 T C N119D + - PD, early onset Reported 81 0.1309 127 14325 T C N117D + - LHON Reported 57 0.0921 95 14340 C T V112M + - SNHL Reported 23 0.0372 502 14342 C A G111V - + Possible association with sepsis Reported 0 0.0000 549 14351 T C E108G - + SNHL + neurodevelopmental delay Reported 2 0.0032 118 14430 A G W82R + - Thyroid Cancer / Leigh Syndrome Reported 0 0.0000 578 14430 A C W82G - + Leigh Syndrome Reported 0 0.0000 313 14439 G A P79S + - LS / Mitochondrial Respiratory Chain Disorder Reported 0 0.0000 401 14441 T C Y78C nr nr Leigh-like phenotype Reported 0 0.0000 50 14453 G A A74V - + MELAS / Leigh Disease Cfrm [LP] 0 0.0000 51 14459 G A A72V + + LDYT / Leigh Disease / dystonia / carotid atherosclerosis risk Cfrm [P] 3 0.0048 524 14465 G A T70I - + LHON / various supected mitochondrial disease Cfrm [LP] 0 0.0000 52 14482 C A M64I + + LHON Cfrm [LP] 2 0.0032 53 14482 C G M64I + + LHON Cfrm [LP] 0 0.0000 54 14484 T C M64V + + LHON Cfrm [P] 69 0.1115 81 14487 T C M63V - + Dystonia / Leigh Disease / ataxia / ptosis / epilepsy Cfrm [P] 0 0.0000 55 14495 A G L60S - + LHON Cfrm [LP] 2 0.0032 56 14498 T C Y59C + + LHON Reported 0 0.0000 214 14502 T C I58V + - LHON Reported - possibly synergistic 211 0.3410 416 14512 TA : frameshift - + EXIT w mild myopathy & hyperCKaemia Cfrm [LP] 0 0.0000 386 14535 C CC frameshift nr nr DMDF Reported 1 0.0016 520 14538 A G F46L + - LHON Reported 0 0.0000 57 14568 C T G36S + - LHON Cfrm [LP] 6 0.0097 168 14577 T C I33V - + MIDM Reported 430 0.6949 350 14582 A G V31A + - LHON synergistic combo 14258A + 14582G Reported: individually neutral variants causing LHON in combination 355 0.5737 58 14596 A T I26M + - LHON with hereditary spastic dystonia Reported [VUS] 0 0.0000 404 14597 A G I26T - + LHON / LS Cfrm [LP] 0 0.0000 568 14598 T C I26V + - PD / LS Reported [VUS] 7 0.0113 164 14600 G A P25L + + Leigh Disease w/optic atrophy / ASD mouse model Reported 0 0.0000 203 14668 C T M2M + - Depressive Disorder associated Reported 2424 3.9171 216 14674 T C + - Reversible COX deficiency myopathy Cfrm [LP] 8155739, 29253894, 31965079, 16150714, 19720722, 21194154, 32970680, 33128823, 34732400, 34806237, 33832841, 21931168, 31333056, 23814040, 25407320 10 0.0162 239 14674 T G + - Reversible COX deficiency myopathy Reported [VUS] 21194154, 23814040, 25407320 0 0.0000 190 14680 C A - + Mitochondrial encephalomyopathy Reported 17715279 0 0.0000 327 14685 G A - + Cataracts w spastic paraparesis & ataxia Reported 23334599 0 0.0000 143 14687 A G + - Mito myopathy w respiratory failure; intellectual disability Reported 16773565, 31965079, 12760436, 29340697, 28429146 375 0.6060 184 14692 A G + - LHON helper / Maternally inherited diabetes & deafness /tic disorder Reported [VUS] 8728098, 27544295, 27519417, 33289513, 32169613, 34991096 25 0.0404 142 14693 A G + + MELAS / LHON / DEAF / hypertension helper Reported 16947981, 23563965, 31965079, 14571459, 16364244, 16955413, 18708405, 17434142, 19818876, 19376484, 16331560, 16414144, 29387390, 22538251, 33552719, 34053002, 33840063, 34120304, 39264244 353 0.5704 145 14696 A G - + Progressive Encephalopathy Reported 31965079, 15286228 84 0.1357 465 14701 C T + - Reversible infantile respiratory chain deficiency (RIRCD) Reported 34400372 0 0.0000 95 14709 T C + + MM+DMDF / Encephalomyopathy / Dementia+diabetes+ophthalmoplegia Cfrm [LP] 7726154, 7726155, 9353617, 11938495, 12393175, 10392369, 10220138, 15880407, 15983868, 17886296, 25652200, 29253894, 31965079, 15126302, 11437868, 15048886, 15607216, 17653689, 20045353, 20064630, 22577219, 22249460, 19199242, 32313153, 23301511, 26469001, 32948797, 22538251 1 0.0016 155 14710 G A - + Encephalomyopathy + Retinopathy Cfrm [VUS*] 23847141, 31965079, 11506394, 15670724, 20064630, 19718780 0 0.0000 306 14721 G A - + Isolated complex I deficiency Reported 24667782 0 0.0000 234 14723 T C - + CPEO + Myopathy Reported 20810132, 22258525 0 0.0000 141 14724 G A - + Mito Leukoencephalopathy Reported [VUS] 23847141, 17266923, 19718780 0 0.0000 317 14728 T C - + Late-onset mitochondrial encephalomyopathy Reported 17897888 0 0.0000 144 14739 G A - + EXIT Reported [VUS] 31965079, 17056256, 19718780 1 0.0016 474 14783 T C L13L nr nr Possible role in high altitude sickness Reported 12770 20.6357 59 14787 TTAA : frameshift - + PD / MELAS Cfrm [LP] 0 0.0000 142 14831 G A A29T + - LHON Reported 115 0.1858 215 14841 A G N32S - + LHON helper mut. Reported 21 0.0339 60 14846 G A G34S - + EXIT / possibly antiatherogenic, poss. myocardial infarction association Reported [VUS] 0 0.0000 61 14849 T C S35P - + EXIT / Septo-Optic Dysplasia Cfrm [VUS*] 0 0.0000 289 14864 T C C40R - + MELAS Reported 3 0.0048 373 14894 T C F50L nr nr LHON Reported 8 0.0129 538 14970 A G Y75C nr nr LHON Reported 7 0.0113 235 15024 G A C93Y + - Possible DEAF modifier Reported 39 0.0630 204 15043 G A G99G + - MDD-associated / possible factor in high altitude sickness Reported 14241 23.0128 62 15059 G A G105Term - + MM / carotid atherosclerosis risk / essential hypertension Reported 0 0.0000 480 15060 G A G105E + - Mitochondrial Respiratory Chain Disorder Reported 0 0.0000 200 15077 G A E111K + - DEAF / LHON / helper mutation for maternally inherited hypertension Reported 135 0.2182 63 15084 G A W113Term - + EXIT Reported 0 0.0000 288 15092 G A G116S - + MELAS Reported 0 0.0000 64 15150 G A W135Term - + EXIT Cfrm [LP] 0 0.0000 393 15153 G A G136D - + Suspected mito disease Reported 6 0.0097 394 15158 A G M138V - + Suspected mito disease Reported 0 0.0000 72 15168 G A W141Term - + EXIT Reported 0 0.0000 291 15170 G A G142Term - + EXIT Reported 0 0.0000 65 15197 T C S151P - + EXIT Reported [VUS] 0 0.0000 503 15200 G T A152S - + Possible factor in sepsis Reported 0 0.0000 292 15209 T C Y155H + - Prader-Willi syndrome Reported 7 0.0113 582 15215 G A G157Term nr nr MELAS Reported 0 0.0000 486 15218 A G T158A + - Possible LHON modulator Reported 1100 1.7775 398 15234 G A W163Term nr nr Leigh stroke-like leukodystrophy Reported 0 0.0000 513 15236 A G I164V nr nr Possible LHON helper (one 11778 patient) Reported 906 1.4641 308 15237 T C I164T + - Potentially functional variant cosegregating with LHON3635A Reported 7 0.0113 66 15242 G A G166Term - + Mitochondrial Encephalomyopathy Cfrm [LP] 0 0.0000 67 15243 G A G166E - + HCM Reported 0 0.0000 481 15246 G A G167D - + Mitochondrial Respiratory Chain Disorder Reported 0 0.0000 384 15256 A G V170V + - Peripheral neuropathy of T2 diabetes Reported 3 0.0048 68 15257 G A D171N + - LHON Conflicting reports 935 1.5109 217 15287 T C F181L - + Possible DEAF helper mut. Reported; hg I6a & H10c marker 116 0.1875 473 15301 G A L185L nr nr Possible factor in high altitude sickness, LHON Reported 16954 27.3969 514 15324 C G A193G nr nr Possible LHON helper (one 11778 patient) Reported 0 0.0000 504 15350 G A E202K - + Possible sepsis factor Reported 0 0.0000 237 15395 A G K217E + - Possible LHON factor Reported 2 0.0032 476 15436 C A L230L nr nr Possible role in high altitude sickness Reported 3 0.0048 283 15453 T C L236P + - Isolated complex III deficiency Reported 11 0.0178 586 15485 C T P247S nr nr Suspected mitochondrial disorder Reported 0 0.0000 93 15497 G A G251S + - EXIT / Obesity Reported 338 0.5462 69 15498 G A G251D - + DEAF / Infantile histiocytoid cardiomyopathy Reported 15 0.0242 70 15498 24bp_deletion GDPDNYTL-del - + EXIT Reported 0 0.0000 79 15579 A G Y278C - + Multisystem Disorder, EXIT Cfrm [VUS*] 0 0.0000 71 15615 G A G290D - + EXIT / Antimycin resistance Reported [VUS] 0 0.0000 337 15620 C A L292I - + Leigh Syndrome helper mut Reported 0 0.0000 290 15635 T C S297P + + Polyvisceral failure / adult Leigh syndrome Reported 2 0.0032 293 15649 18bp_deletion ILAMIP-del - + Multisystem Disorder, EXIT Reported 0 0.0000 232 15662 A G I306V + + Complex mitochondriopathy-associated Reported 204 0.3297 154 15674 T C S310P + - LHON Reported 166 0.2682 231 15693 T C M316T + - Possibly LVNC cardiomyopathy-associated Reported 764 1.2346 135 15699 G C R318P - + Muscle Weakness SNHL and Migraine Reported 0 0.0000 73 15723 G A W326Term - + EXIT Reported 0 0.0000 223 15761 G A G339Term + MM Reported 0 0.0000 74 15762 G A G339E - + MM Reported 0 0.0000 174 15773 G A V343M + - LHON Reported - possibly synergistic 75 0.1212 316 15784 T C P346P + - POAG - potential for association Reported 2017 3.2594 180 15800 C T Q352Term - + EXIT / Myopathy Reported 0 0.0000 372 15804 T C V353A + - Fibromyalgia Reported 39 0.0630 75 15812 G A V356M + - LHON Reported / Secondary 516 0.8338 356 15894 G A + - Gout Reported 31965079, 29976239 40 0.0646 443 15897 G A + - Maternally inherited diabetes (MID) Reported 31965079, 32083134 0 0.0000 432 15901 A G nr nr Hearing loss patient Reported 32169613 10 0.0162 433 15902 A G nr nr Hearing loss patient Reported 32169613 10 0.0162 472 15904 C T nr nr Protective factor for stroke risk (hg V) Reported 37793469 1003 1.6208 182 15908 T C + - DEAF helper mutation Reported 31965079, 16955413, 19818876, 22538251 213 0.3442 361 15909 A G + - Hypertension Reported 31965079, 29129694, 27544295 6 0.0097 409 15910 C T + - Tic disorder patient / hearing loss patient / coronary heart disease Reported 33289513, 32169613, 31842766 33 0.0533 96 15915 G A - + Encephalomyopathy Reported [VUS] 8769114, 9367299, 31965079, 32970680 1 0.0016 97 15923 A G + + LIMM / MERRF / mito disease Cfrm [LP] 1379415, 1645537, 8511015, 22638997, 30236074 0 0.0000 98 15924 A G nr nr LIMM Reported 1379415, 2043137, 1645537, 10680807, 16773565, 27498855, 31965079, 37845428 2181 3.5244 435 15926 C T nr nr Hearing loss patient Reported 23847141, 32169613 9 0.0145 126 15927 G A + - LHON / Multiple Sclerosis / DEAF1555 increased penetrance / CHD Reported 9113500, 10680807, 23563965, 23736300, 26782414, 31965079, 8899049, 18386806, 18820594, 19818876, 24470521, 29225014, 30541130, 30854964, 18930888, 22538251, 33552719, 34053002, 34120304, 34991096, 37845428 596 0.9631 127 15928 G A + + Multiple Sclerosis / idiopathic repeat miscarriage / AD protection Reported 9113500, 10377009, 10680807, 16773565, 23563965, 31965079, 8899049 3199 5.1694 473 15930 G A + - Possible DEAF risk factor Reported 32400865 1312 2.1201 335 15933 G A + - Suspected mito disease Reported 28187756 0 0.0000 206 15942 T C + - Possibly LVNC-associated Reported 31965079, 20211276 441 0.7126 264 15944 T : + - MM Conflicting reports 9832049, 31965079, 18178636 868 1.4026 410 15948 A G nr nr Reported in tic disorder patient Reported 33289513 5 0.0081 188 15950 G A + + LHON / LHON-MS / dopaminergic nerve cell death (PD) / tic disorder Reported 31965079, 10369889, 33289513, 35808913 4 0.0065 131 15951 A G + - LHON / LHON modulator Conflicting reports 19022198, 23563965, 31965079, 16624503, 26000946, 21983721, 29387390, 33552719, 34053002, 34120304 418 0.6755 411 15952 C T nr nr Reported in tic disorder patient Reported 33289513 5 0.0081 390 15958 A T - + Severe myopathy / EXIT Reported [VUS] 32419253, 27816331 0 0.0000 189 15965 A G + - Dopaminergic nerve cell death (PD) Reported 31965079, 10369889 12 0.0194 235 15967 G A - + MERRF-like disease Reported [VUS] 31965079, 19273760, 19718780 0 0.0000 187 15975 C T - + Ataxia+RP+deafness Reported 19223931 0 0.0000 441 15986 G GG LHON modulator Reported 33552719, 31743754, 32991883 0 0.0000 100 15990 C T - + MM / PEO Cfrm [LP] 8190311, 7689388, 9421512, 19718780, 32305257 0 0.0000 394 15992 A T + - Exercise-induced muscle swelling and fatigue Reported 32802947 1 0.0016 412 15992 A G nr nr Maternally inherited hypertension / tic disorder patient / hearing loss patient Reported 33289513, 32169613, 34346491 5 0.0081 117 15995 G A - + Mitochondrial cytopathy Reported 12406974, 31965079, 12400067 0 0.0000 437 15997 T C nr nr Hearing loss patient Reported 32169613 0 0.0000 332 15998 A T - + Mitochondrial myopathy Reported 27536729 0 0.0000 191 16002 T C - + Mitochondrial cytopathy Reported [VUS] 31965079, 11196116 0 0.0000 333 16015 T C - + Mitochondrial myopathy Reported 27536729 0 0.0000 305 16018 T TTCTCTGTTCTTTCAT - + Dilated cardiomyopathy (15 bp dup), alternate notation Reported 31965079, 22954281 0 0.0000 334 16021 CT : - + Mitochondrial myopathy Reported 27536729 0 0.0000 301 16023 G A - + Migraine +pigmentary retinopathy +deafness +leukariosis Reported 23696415, 34969639, 30876822 0 0.0000 302 16032 T TTCTCTGTTCTTTCAT - + Dilated cardiomyopathy (15 bp dup), alternate notation Reported 22954281 2 0.0032 561 16051 A G noncoding nr nr Possible susceptibility to bullous pemphigoid Reported 1587 2.5645 302 16081 A G noncoding - + Cyclic Vomiting Syndrome Reported 2 0.0032 301 16093 T C noncoding - + Cyclic Vomiting Syndrome / Increased risk of breast cancer Reported 3589 5.7997 300 16129 G A noncoding - + Cyclic Vomiting Syndrome with Migraine Reported 8063 13.0294 562 16162 A G noncoding nr nr Possible susceptibility to bullous pemphigoid Reported 1170 1.8907 299 16176 C T noncoding - + Cyclic Vomiting Syndrome with Migraine Reported 499 0.8064 296 16183 A C noncoding nr + Melanoma patients Reported 7993 12.9163 505 16188 C CC noncoding - + Possible association with sepsis Reported 30 0.0485 76 16189 T C noncoding + - Diabetes / Cardiomyopathy /cancer risk / mtDNA copy nbr / Metabolic Syndrome / Melanoma patients Reported 15259 24.6578 297 16192 C T noncoding nr nr Melanoma patients Reported 2703 4.3679 353 16217 T C noncoding + - Endometriosis Reported 4357 7.0407 563 16263 T C noncoding nr nr Possible susceptibility to bullous pemphigoid Reported 592 0.9566 298 16270 C T noncoding nr nr Melanoma patients Reported 3037 4.9076 573 16298 T C noncoding nr nr Protective factor for stroke risk (hg V) Reported 4175 6.7466 209 16300 A G noncoding + - BD-associated Reported 315 0.5090 340 16318 A C noncoding nr nr Non-alcoholic steatohepatitis - potential for association Reported 109 0.1761 317 16390 G A noncoding + - POAG - potential for association Reported 3331 5.3827 257 16519 T T noncoding + - Cyclic Vomiting Syndrome with Migraine /metastasis Reported 23186 37.4675