id pos ref alt aachange homoplamsy heteroplasmy disease status pubmed_ids gbcnt gbfreq 205 114 C T noncoding + - BD-associated Reported 19290059 188 0.44 166 150 C T noncoding + + Longevity / Cervical Carcinoma / HPV infection risk Conflicting reports 12538859, 11404057, 12606714, 15483642, 21262335, 16857160, 21319252, 21385627 5584 13.10 206 195 T C noncoding + - BD-associated / melanoma pts Reported 19290059, 22174736, 27217714 8308 19.50 294 302 A ACC noncoding . . Higher in melanoma patient group Reported 22174736 74 0.17 218 309 C CC noncoding . . AD-weakly associated Reported 19703591 308 0.72 295 310 T TC noncoding . . Melanoma patients Reported 22174736 0 0.00 109 582 T C - + Mitochondrial myopathy Reported 14659412, 19718780 0 0.00 1 583 G A - + MELAS / MM & EXIT Cfrm 9771776, 16806928, 19718780 0 0.00 233 586 G A - + Extrapyramidal disorder with akinesia-rigidity, psychosis and SNHL Reported 21060018, 19718780 0 0.00 269 602 C T - + Axial myopathy with encephalopathy Reported 21424749, 24062162 0 0.00 2 606 A G + + Myoglobinuria Unclear 9066365, 14733964, 10611123 14 0.03 3 608 A G + - Tubulo-interstitial nephritis Reported 11231339, 24062162 0 0.00 113 611 G A - + MERRF Reported 15184630, 20142618, 19718780 0 0.00 237 616 T C + + Maternally inherited epilepsy Reported 20142618 1 0.00 161 616 T G + + Maternally inherited epilepsy Reported 20142618 1 0.00 331 617 G A - + Carotid artery stenosis Reported 19091329 0 0.00 278 618 T G - + Ptosis CPEO MM & EXIT Reported 21882289 0 0.00 4 618 T C - + MM Reported 9636664 0 0.00 129 622 G A - + EXIT & Deafness Reported 16769874, 19718780 0 0.00 274 625 G A - + SNHL & Epilepsy Reported 21914246 0 0.00 319 628 C T - + DEAF Reported 22979943 3 0.01 169 636 A G + - DEAF Reported 23847141, 27498855, 18790089 18 0.04 167 642 T C - + Ataxia, PEO, deafness Reported 18977334 0 0.00 267 663 A G + - Coronary Atherosclerosis risk Reported 21099167 1266 2.97 178 669 T C + - DEAF Reported 19371214, 17637808, 20353758, 18851951 71 0.17 197 721 T C + - Possibly LVNC-associated Reported 20211276 83 0.19 263 735 A G . . DEAF Reported 20055758 52 0.12 219 745 A G + - DEAF-associated Reported 20100600 27 0.06 198 750 A A + - SZ-associated Reported 19290059, 23563965, 27217714 0 0.00 220 792 C T + - Increased risk of nonsyndromic deafness Reported 20100600 3 0.01 221 801 A G + - DEAF-associated Reported 20100600 6 0.01 64 827 A G + - DEAF Conflicting reports - B4b'd marker 19144107, 20722495, 15286157, 15841390, 16528519, 18261986, 18790089, 19371214, 16650816, 20353758, 18611982, 21495045, 17489842 1060 2.49 222 839 A G + - DEAF-associated Reported 20100600 5 0.01 199 850 T C + - Possibly LVNC-associated Reported 20211276 110 0.26 183 856 A G + - LHON helper / AD / DEAF-associated Reported 8728098, 19703591, 20100600 19 0.04 270 869 C T + - found in 1 HCM patient Reported 16266762 66 0.15 200 921 T C + - Possibly LVNC-associated Reported 20211276, 27217714 330 0.77 212 960 C CC + - Possibly DEAF-associated Reported 18851951 243 0.57 211 960 C : + - Possibly DEAF-associated Reported 18851951 0 0.00 104 961 T CC + + DEAF / AD-associated Unclear 8104867, 14681830, 7550368, 10220138, 19144107, 14581685, 10326749, 7550368, 12037390, 12394346, 16120283, 18790089, 19703591, 15917167, 18851951, 20100600, 21495045, 17489842 0 0.00 110 961 T TC + - DEAF Unclear 14681830, 14581685, 14699607, 10326749, 7550368, 12037390, 12394346, 15126302, 15841390, 16380089, 20100600 0 0.00 107 961 T C + - DEAF, possibly LVNC-associated Unclear 15841390, 16528519, 18325329, 19371214, 20100600, 17489842 381 0.89 213 961 T G + - Possibly DEAF-associated Reported 15286157, 18851951 131 0.31 209 988 G A . . Possible DEAF risk factor Reported 20353758 32 0.08 170 990 T C + - DEAF Reported 18790089 29 0.07 120 1005 T C + - DEAF Unclear 27498855, 15841390, 16528519, 17489842 189 0.44 223 1027 A G + - DEAF-associated Reported 20100600 12 0.03 5 1095 T C + + SNHL Unclear 11313749, 11079536, 16947981, 19144107, 15555598, 15637703, 15841390, 16528519, 18325329, 20100600, 21495045, 17489842 50 0.12 121 1116 A G + - DEAF Reported 15841390, 17489842 10 0.02 214 1180 T G + - Possibly DEAF-associated Reported 15286157 0 0.00 224 1192 C A + - DEAF-associated Reported 27498855, 20100600 6 0.01 225 1192 C T + - DEAF-associated Reported 20100600 9 0.02 215 1226 C G + - Possibly DEAF-associated Reported 15286157 0 0.00 162 1291 T C + - DEAF Unclear 16458854, 16574076, 16777068 23 0.05 226 1310 C T + - DEAF-associated Reported 20100600 30 0.07 227 1331 A G + - DEAF-associated Reported 20100600 6 0.01 228 1374 A G + - DEAF-associated Reported 20100600 1 0.00 271 1391 T C + - found in 1 HCM patient Reported 16266762 117 0.27 201 1438 A A + - SZ-associated Reported 16947981, 19290059, 27217714 0 0.00 229 1452 T C + - DEAF-associated Reported 20100600 48 0.11 210 1453 A G . . Possible DEAF risk factor Reported 20353758 59 0.14 103 1494 C T + - DEAF Cfrm 14681830, 16947981, 16826519, 19144107, 20860455, 25838379, 25837512, 15126302, 15722487, 16380089, 17434445, 17698030, 18308926, 18325329, 16458854, 19687236, 20100600, 16890911, 21495045, 17489842 4 0.01 153 1517 A C - + DEAF Reported 18325329 0 0.00 179 1537 C T + - DEAF Reported 17637808 4 0.01 8 1555 A G + - DEAF Cfrm 8285309, 8414970, 7689389, 7649544, 9040738, 9490575, 9164619, 9391883, 9831149, 9777488, 9887373, 9915970, 10414625, 10521300, 9779807, 8800928, 10788333, 11388757, 10220138, 12031626, 16947981, 9315872, 16826519, 18154640, 18674747, 19144107, 20860455, 22341444, 23847141, 25838379, 25837512, 26404827, 15179218, 12372057, 12655418, 14699607, 12370316, 10905659, 12011058, 10326749, 8817331, 12955586, 7550368, 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 64 0.15 272 1556 C T + - found in 1 HCM patient Reported 16266762 4 0.01 9 1606 G A - + AMDF Cfrm 9450773, 12056939, 20064630 0 0.00 287 1607 T C + + Suspected mito disease Reported 23463613 9 0.02 10 1624 C T + - Leigh Syndrome Reported 11799391, 17886296, 25652200, 18400783 0 0.00 244 1630 A G - + MNGIE-like disease / MELAS Cfrm 19252805, 21540128 0 0.00 11 1642 G A - + MELAS Reported 9443499, 8797538 0 0.00 284 1643 A G + + Late infantile onset fatal mito disease Reported 22638997 0 0.00 273 1644 G A - + LS / HCM / MELAS Cfrm 23847141, 15320572, 18314141, 24691472 0 0.00 12 1644 G T - + Adult Leigh Syndrome Reported 9270602 0 0.00 125 1659 T C - + Movement Disorder Reported 15465092 0 0.00 202 2352 T C + - Possibly LVNC-associated Reported 27498855, 20211276, 27217714 1132 2.66 203 2361 G A + - Possibly LVNC-associated Reported 20211276 121 0.28 312 2639 C A + - Rare mutation in a single POAG patient Reported 27217714 1 0.00 204 2755 A G + - Possibly LVNC-associated Reported 20211276, 27217714 193 0.45 13 2835 C T - + Rett Syndrome Reported 9436797, 10457616 38 0.09 266 3010 G A + - Cyclic Vomiting Syndrome with Migraine Reported; also common pm 16947981, 16773565, 19368653, 25332060, 19220304, 27217714 6286 14.75 177 3090 G A - + Myopathy Reported 17761147 1 0.00 14 3093 C G - + MELAS Reported 11455195, 17660142 0 0.00 311 3111 A T + - Migraine Reported 6 0.01 15 3196 G A + + ADPD Reported 8104867, 19703591 13 0.03 163 3236 A G . . Sporadic bilateral optic neuropathy Reported 18676632, 29161289 2 0.00 122 3242 G A + + MM / HCM+renal tubular dysfunction Reported 22781753, 24667782, 15870203, 19460299, 21364701 0 0.00 16 3243 A G - + MELAS / LS / DMDF / MIDD / SNHL / CPEO / MM / FSGS / ASD / Cardiac+multi-organ dysfunction Cfrm 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, 11241464, 10939569, 10611124, 11335700, 11085913, 11889254, 11145497, 10220138, 10514449, 12612863, 11074292, 10858457, 11708999, 11175302, 9708761, 15880407, 11742413, 17236134, 11874423, 17886296, 18674747, 16483543, 16815877, 16120315, 19297390, 20471050, 20973690, 21263444, 22411789, 22080835, 23390135, 19561330, 23297368, 23272214, 22921075, 19253345, 19470619, 18753147, 24003133, 22306605, 21944974, 24667782, 16490799, 25192935, 25192510, 24864317, 25652200, 26404827, 15258237, 12574954, 12207817, 12609508, 14648149, 15032978, 12391367, 12590018, 12089377, 12874464, 14648337, 15220216, 15238271, 15180810, 10636741, 9598702, 14571459, 14639582, 12627331, 12150714, 12838523, 14722523, 15111665, 15056184, 15126302, 10699169, 15752543, 15660201, 15870203, 15893315, 8751860, 8777986, 8712800, 16050991, 16120283, 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, 24062162, 21364701, 25451262, 26897329, 27923514, 27986282, 28054208, 29161289, 29079678, 20552288, 20812177, 28140742, 10366077, 23806424 9 0.02 18 3243 A T - + MM / MELAS / SNHL / CPEO Cfrm 9168904, 15477393, 12729737, 16950816, 18203188, 20471262 0 0.00 123 3244 G A - + MELAS Reported 24667782, 15870203, 19460299, 29161289 6 0.01 20 3249 G A - + KSS Reported 11448301, 15477393, 29161289 0 0.00 21 3250 T C - + MM / CPEO Reported 1514779, 9003864, 12160969, 14639582, 15870203, 15477393, 12729737, 15466077, 21364701, 29161289 0 0.00 22 3251 A G - + MM Reported 8265770, 8786060, 29161289 0 0.00 23 3252 A G - + MELAS Reported 8111377, 7603510, 25192510, 15477393 0 0.00 288 3252 A T - + EXIT Reported 23463613 0 0.00 336 3253 T C + - Maternally inherited hypertension Reported 28679533, 29161289 6 0.01 172 3254 C A - + Gestational Diabetes (GDM) Reported 10704697 22 0.05 24 3254 C G - + MM Reported 9270605, 15477393, 29161289 0 0.00 124 3254 C T + - CPEO / poss. hypertension factor Reported 15870203, 15477393, 20064630, 19778529, 29161289 13 0.03 116 3255 G A - + MERRF / KSS overlap Reported 12868503, 15477393, 20064630 0 0.00 25 3256 C T - + MELAS Cfrm 8254046, 7804130, 7599217, 9744809, 16483543, 12972383, 15477393, 18165269, 20064630, 19941338, 16384802, 10953207, 19718780, 23376095 0 0.00 26 3258 T C - + MELAS / Myopathy Cfrm 11335700, 23847141, 12798797, 15870203, 15477393 1 0.00 27 3260 A G - + MMC / MELAS Cfrm 8132749, 8210299, 1677065, 7599217, 9744809, 8941275, 15477393, 18165269, 18647627, 20064630 0 0.00 28 3264 T C - + DM Reported 9203451, 15477393, 29161289 0 0.00 29 3271 T C - + MELAS / DM Cfrm 1932147, 8280119, 8482977, 7684581, 7599217, 7603510, 7603512, 9455930, 9766710, 9744809, 16120315, 21944974, 25192510, 12609508, 12527767, 15794182, 15870203, 15477393, 12729737, 18165269, 19370763, 20064630, 20972245, 21364701, 29161289 0 0.00 30 3271 T : - + PEM Cfrm 7854527, 15477393 0 0.00 32 3273 T C - + Ocular myopathy Reported 11404120, 15477393, 29161289 0 0.00 265 3274 A G - + Neuropsychiatric syndrome + cataract Reported 16384802, 11723298 0 0.00 33 3275 C A + - LHON Reported 10612844, 15477393, 29161289 1 0.00 246 3277 G A + - Poss. hypertension factor Reported 19778529 27 0.06 247 3278 T C + - Poss. hypertension factor Reported 19778529 13 0.03 34 3280 A G - + Myopathy Cfrm 11335700, 12402350, 12798797, 15870203, 15477393, 20064630 0 0.00 156 3287 C A - + Encephalomyopathy Reported 15670724, 19718780 0 0.00 35 3288 A G - + Myopathy Reported 10402027, 15477393 0 0.00 248 3290 T C + - Poss. hypertension factor Reported 19778529, 29161289 99 0.23 36 3291 T C - + MELAS / Myopathy / Deafness+Cognitive Impairment Cfrm 7520241, 7603510, 10899447, 15870203, 15477393, 18165269, 18977334, 20064630, 22471645, 20943236, 21863273, 24338029, 29161289 0 0.00 37 3302 A G - + MM Cfrm 8366098, 7635294, 16050991, 15477393, 7735877, 17130166, 19370763, 20064630, 29161289 0 0.00 38 3303 C T + + MMC Cfrm 7906985, 9841711, 10431114, 23847141, 12609508, 15477393, 12729737, 16337222, 20064630, 20226758, 21364701, 29161289 0 0.00 1 3308 T C M-T - + MELAS / DEAF enhancer / hypertension / LVNC / putative LHON P.M.-possibly synergistic 9299504, 10521313, 12160969, 10519336, 10070626, 14960712, 15972314, 10924280, 18194667, 21457906, 22777272, 21625124, 21968326, 22777278 326 0.76 225 3308 T G M-X + + Sudden Infant Death Reported 12160969 6 0.01 167 3310 C T P-S + + Diabetes / HCM Reported 16828917, 15977098, 12610069 11 0.03 2 3316 G A A-T + - Diabetes / LHON / PEO Unclear 7733935, 9384601, 10395242, 10520236, 12436196, 10636741, 11238687, 15972314, 16409568, not in PubMed, 8858117, 10704697, 11961525, 15338331, 16477364, 16331560, 16414144, 22949535 381 0.89 324 3335 T C I-T + - LHON (putative) Reported 27177320 41 0.10 248 3337 G A V-M + - Cardiomyopathy Possibly synergistic 18502698 70 0.16 185 3340 C T P-S + - Encephaloneuromyopathy Reported 15465027 3 0.01 130 3376 G A E-K + + LHON MELAS overlap Cfrm 15657614, 22079202, 19001017 0 0.00 220 3380 G A R-Q - + MELAS Reported 18590963 3 0.01 312 3388 C A L-M . . Materally Inherited Nonsyndromic Deafness Reported 22241583 16 0.04 325 3391 G A G-S + - LHON (putative) Reported 27177320 45 0.11 3 3394 T C Y-H + - LHON / Diabetes / CPTdeficiency / high altitude adaptation Reported / Unclear 8680405, 1732158, 1417830, 1442494, 7599217, 7635294, 8728705, 10520236, 16773565, 18679013, 19324017, 20728388, 22517755, 23563965, 22233893, 24002810, 27498855, 15972314, 16168441, 10704697, 18428021, 15338331, 21457906, 21694444, 16331560, 16414144, 27177320 580 1.36 245 3395 A G Y-C + + LHON / HCM with hearing loss Reported 21144833, 23847141, 28139165 20 0.05 252 3396 T C syn + - NSHL / MIDD Reported / Unclear 8728705, 17336924 308 0.72 4 3397 A G M-V + - ADPD / Possibly LVNC-cardiomyopathy associated Reported 8104867, 7599217, 8741876, 16523671, 21263444, 27498855, 15972314, 20211276, 21457906 120 0.28 195 3398 T C M-T + - DMDF+HCM / GDM / possibly LVNC cardiomyopathy-associated Reported 7599217, 8723687, 10704697, 20211276, 10894993 166 0.39 196 3399 A T M-I + - Gestational Diabetes (GDM) Reported 10704697 12 0.03 259 3407 G A R-H + - HCM / Muscle involvement Conflicting reports 16266762, 17482693, 22258525 1 0.00 186 3418 A G N-D + - AMegL Reported 18368068 1 0.00 172 3421 G A V-I + - MIDD Reported 16949108 68 0.16 5 3460 G A A-T + + LHON Cfrm 8680405, 1732158, 1928099, 1734726, 7901141, 1674640, 1550131, 8213820, 1444915, 8270249, 8024249, 1959619, 8401538, 8071952, 8496715, 8195807, 7853025, 7770132, 7611298, 7635294, 7924787, 7821467, 7710535, 7629530, 7977345, 7735876, 7760326, 7599218, 9012411, 8659512, 8571959, 9302261, 9412783, 9150158, 9852675, 10426140, 10520236, 8755941, 10426138, 10939569, 12205655, 11074292, 15638829, 12446713, 16083845, 16523671, 16532388, 16380918, 17886296, 18216301, 18674747, 17652639, 11339587, 20471050, 21253496, 11001192, 19710181, 19525327, 15883259, 21788663, 21810891, 22079202, 15342361, 22410442, 15629832, 15629831, 21887510, 23297368, 23847141, 25192510, 25053773, 27847334, 28040497, 28233183, 28481993, 26404827, 14750573, 14671420, 15126312, 15060117, 12409182, 16120372, 11523562, 8931573, 16050984, 8941270, 15972314, 17003408, 17479363, 8556281, 12023431, 18214789, 18402672, 15466086, 18320530, 11331900, 18070226, 15282189, 16829155, 17406640, 16972023, 15728653, 18647627, 17434142, 10545708, 16564802, 19370763, 19319978, 11329546, 11124301, 17942074, 20064630, 20123042, 19001017, 8600429, 19268652, 20599858, 20211598, 20454697, 20943885, 21067478, 20809775, 20232220, 17292333, 19098324, 19255150, 18806273, 19800080, 20053576, 15720387, 21457906, 21694444, 21397051, 15282179, 26605371, 27746671, 27177320, 27787713 20 0.05 287 3472 T C F-L + - LHON Reported 24800637, 27177320 5 0.01 162 3481 G A E-K - + MELAS Reported 17535832, 18977334 0 0.00 182 3481 G A E-K - + Progressive Encephalomyopathy Reported 18504678 0 0.00 326 3488 T C L-P + - LHON (putative) Reported 27177320 1 0.00 6 3496 G T A-S + - LHON Reported / Secondary 10520236, 15972314 11 0.03 7 3497 C T A-V + - LHON Reported / Secondary 10520236, 15972314, 16477364 129 0.30 327 3551 C T A-V + - LHON (putative) Reported 27177320 0 0.00 328 3632 C T S-F + - LHON (putative) Reported 27177320 0 0.00 323 3634 A G S-G + - LHON Reported 27613247 0 0.00 8 3635 G A S-N + - LHON Cfrm 11479733, 15972314, 19497304, 21074518, 19527690, 23304069, 27177320 9 0.02 212 3644 T C V-A . . BD-associated Reported 15533721, 19290059, 23563965 189 0.44 189 3688 G A A-T + - Leigh Syndrome Reported 18977334, 24642831 0 0.00 120 3697 G A G-S + + MELAS / LS / LDYT Cfrm 15466014, 15972314, 18402672, 16969869, 18977334, 19001017, 17562939, 21457906, 24830958, 21364701 0 0.00 141 3700 G A A-T + - LHON Cfrm 12150954, 22879922 3 0.01 329 3713 T C V-A + - LHON (putative) Reported 27177320 0 0.00 268 3733 G C E-Q - + LHON Reported 22879922 0 0.00 131 3733 G A E-K + + LHON Cfrm 15505787, 22879922, 19001017, 19098324, 21457906, 27177320 2 0.00 253 3736 G A V-I . . LHON Reported 20643099 70 0.16 284 3745 G A A-T . . Possible adaptive high altitude variant Reported 24002810 95 0.22 330 3769 C G L-V + - LHON (putative) Reported 27177320 0 0.00 331 3781 T C S-P + - LHON (putative) Reported 27177320 0 0.00 80 3796 A G T-A - + Adult-Onset Dystonia Reported 12756609, 15972314, 21457906 187 0.44 177 3833 T A L-Q + - PEG Reported 18246027 0 0.00 249 3866 T C I-T . . LHON +limb claudication Reported 20176558, 27177320 122 0.29 181 3890 G A R-Q - + Progressive Encephalomyopathy / LS / Optic Atrophy Cfrm 23246842, 23847141, 18504678, 27798429 1 0.00 339 3902 inversion DLA-GKV - + EXIT+myalgia / severe LA+cardiac / 3-MGA aciduria Cfrm 10775530, 16492986, 27290639 0 0.00 332 3919 T C S-P + - LHON (putative) Reported 27177320 0 0.00 121 3946 G A E-K + + MELAS Reported 15466014, 15972314, 18402672, 21457906, 16849371, 21364701 2 0.00 122 3949 T C Y-H - + MELAS Reported 15466014, 15972314, 18402672, 21457906, 16849371, 21364701 1 0.00 333 3958 G A G-S + - LHON (putative) Reported 27177320 0 0.00 280 3959 G A G-D . . MELAS Reported 23834081 0 0.00 281 3995 A G N-S . . MELAS Reported 23834081 15 0.04 334 4081 T C F-L + - LHON (putative) Reported 27177320 0 0.00 335 4123 A T I-F + - LHON (putative) Reported 27177320 0 0.00 242 4132 G A A-T + - NAION-associated Reported 17454741 7 0.02 9 4136 A G Y-C + - LHON Possibly synergistic 2018041, 7599217, 7635294, 7977345, 7760326, 9150158, 18216301, 8751850, 15972314, 21457906 54 0.13 271 4142 G A R-Q - + Developmental delay, seizure, hypotonia Reported 23463613 0 0.00 10 4160 T C L-P + - LHON Reported 2018041, 7770132, 7635294, 7821467, 7760326, 15972314, 18647627, 19001017, 21457906, 22258525 1 0.00 336 4163 T C M-T + - LHON (putative) Reported 27177320 0 0.00 11 4171 C A L-M + + LHON Cfrm 12112111, 22879922, 15972314, 19555656, 19001017, 21457906 2 0.00 12 4216 T C Y-H + - LHON / Insulin Resistance /possible adaptive high altitude variant P.M. - haplogroup J / T marker 8680405, 1634041, 1900003, 1463007, 8071952, 7599217, 7770132, 7635294, 7977345, 7814218, 7599218, 7763260, 8741876, 9150158, 9832034, 9719386, 8755941, 11935318, 12150954, 15786469, 16773565, 16759180, 11339587, 24002810, 27498855, 8899049, 8593537, 16050984, 15972314, 10737123, 16132471, 15338331, 10545708, 10894993, 10424809, 21067478, 21457906 4267 10.01 245 4263 A G + - Maternally inherited essential hypertension Reported 21134354, 19778529, 19895710, 21454794 1 0.00 106 4267 A G - + MM / CPEO Reported 12207935, 15477393, 17965958, 19718780 0 0.00 39 4269 A G - + FICP Reported 7518448, 1632786, 12655007, 9466989, 15477393, 15005711, 11000270, 20064630, 24062162 0 0.00 40 4274 T C - + CPEO / Motor Neuron Disease Reported 9339712, 17886296, 12655007, 16358336, 15477393 0 0.00 249 4277 T C + - Poss. hypertension factor Reported 19778529 14 0.03 328 4279 A G - + Myoclonic epilepsy Reported 23601850 0 0.00 268 4281 A G - + Recurrent Myoglobinuria Reported 21324494 1 0.00 325 4282 G A - + CPEO Plus Reported 25034047 0 0.00 41 4284 G A - + Varied familial presentation / spastic paraparesis Reported 11782991, 12655007, 15477393, 18977334, 24062162 2 0.00 42 4285 T C - + CPEO Reported 8607814, 10611124, 12655007, 15477393, 24062162 0 0.00 293 4289 T C - + Retinopathy+diabetes+dysphagia+cerebral atrophy Reported 23696415 0 0.00 115 4290 T C + + Progressive Encephalopathy / PEO,myopathy Reported 21533077, 15121771, 15477393, 18977334 0 0.00 119 4291 T C + - Hypomagnesemic Metabolic Syndrome Reported 15498972 0 0.00 43 4295 A G + + MHCM / Maternally inherited hypertension / Maternally inherited deafness Reported 8889580, 11406419, 16947981, 21263444, 12655007, 15477393, 20064630, 18177739, 19778529, 22241583 91 0.21 303 4296 G A - + Leigh Syndrome Reported 21982779, 23395828, 23288206 0 0.00 44 4298 G A - + CPEO / MS Cfrm 9473477, 17886296, 12655007, 16120360, 15477393, 10611123, 20064630, 19718780, 20164463 0 0.00 45 4300 A G + + MICM Cfrm 7646516, 10065021, 23847141, 12655007, 12767666, 15477393, 20064630, 10334428 0 0.00 231 4302 A G - + CPEO Reported 20149659 0 0.00 240 4308 G A - + CPEO Cfrm 21292040, 20884012 0 0.00 46 4309 G A - + CPEO Reported 9808249, 12655007, 15477393 1 0.00 250 4314 T C + - Poss. hypertension factor Reported 19778529 35 0.08 241 4316 A G + + HCM with hearing loss / poss. hypertension factor Reported 21144833, 23847141 30 0.07 47 4317 A G + - FICP / poss. hypertension factor Reported 1433821, 1978914, 7603519, 23847141, 12655007, 9466989, 15477393, 19778529 20 0.05 48 4320 C T - + Mitochondrial Encephalocardiomyopathy Reported 7488201, 12655007, 15477393, 20064630 1 0.00 318 4322 C CC - + Idiopathic Dilated Cardiomopathy Reported 18043288 3 0.01 49 4332 G A - + Encephalopathy / MELAS Cfrm 11335700, 11171912, 20064630, 19718780 0 0.00 50 4336 T C + + ADPD / Hearing Loss & Migraine Unclear 8004796, 8104867, 7624338, 8741876, 10680807, 8848229, 11335700, 15247418, 9004131, 16947981, 11424923, 15786469, 16154228, 16773565, 15975594, 19076426, 10953187, 8723226, 15292920, 19703591, 10424809, 17174475 367 0.86 251 4343 A G + - Poss. hypertension factor Reported 19778529 48 0.11 252 4345 C T + - Poss. hypertension factor Reported 19778529 2 0.00 253 4353 T C + - Poss. hypertension factor Reported 19778529 17 0.04 217 4363 T C + - Possibly associated w DEAF + RP + dev delay / hypertension Reported 12406974, 27498855, 19778529 42 0.10 51 4369 A AA - + Myopathy Reported 10996779, 19718780 0 0.00 289 4372 C T - + Suspected mito disease Reported 23463613 0 0.00 205 4373 T C + - Possibly LVNC-associated Reported 20211276 8 0.02 135 4381 A G + - LHON Reported 17003408 4 0.01 314 4386 T C + - Heart disease / myopathy / hypertension Conflicting reports 26782414, 16337222, 24470521 145 0.34 254 4387 C A + - Poss. hypertension factor Reported 19778529 0 0.00 255 4388 A G + - Poss. hypertension factor Reported 19778529 43 0.10 256 4392 C T + - Poss. hypertension factor Reported 19778529 17 0.04 257 4395 A G + - Poss. hypertension factor Reported 19778529 22 0.05 175 4401 A G + - Hypertension+Ventricular Hypertrophy Reported 19546379, 18701880 2 0.00 324 4403 G A - + Mitochondrial myopathy Reported 24711008 2 0.00 52 4409 T C - + Mitochondrial myopathy Reported 9633749, 14648149, 19941338, 23376095, 23838278 0 0.00 258 4410 C A + - Poss. hypertension factor Reported 19778529 0 0.00 186 4415 A G - + EXIT & APS2 Reported 19460300 0 0.00 128 4435 A G + - LHON modulator / hypertension Reported 16431939, 19022198, 19398658, 17123466, 19778529, 21694735 44 0.10 290 4437 C T + - Hypotonia, seizure, muscle weakness, lactic acidosis, hearing loss Reported 23463613 1 0.00 53 4450 G A - + Myopathy Reported 9384601, 11335700 0 0.00 218 4454 T C + - Possible contributor to mito dysfunction / hypertension Reported 12406974, 19778529 198 0.46 259 4456 C T - + Poss. hypertension factor Reported 19778529 5 0.01 240 4633 C G A-G + - LHON candidate Reported 2567271 0 0.00 13 4640 C A I-M + - LHON Reported 11479733, 16523671, 15972314, 21457906 117 0.27 176 4648 T C F-S + - PEG Reported 18246027 1 0.00 194 4659 G A A-T + - possible PD risk factor Reported 19076426 57 0.13 158 4681 T C L-P - + Leigh Syndrome Reported 16996290, 21457906 1 0.00 201 4769 A A syn + - SZ-associated Reported 16773565, 19290059 0 0.00 169 4833 A G T-A + - Diabetes helper mutation; AD, PD Reported; haplogroup G marker 11095989, 18468491 343 0.80 243 4852 T A L-Q + - LHON Reported 20454697 0 0.00 315 4883 C T syn + - Glaucoma Conflicting reports 27217714, 24448266 2068 4.85 14 4917 A G N-D + - LHON / Insulin Resistance / AMD / NRTI-PN Reported; haplogroup T marker 8680405, 1550131, 1900003, 8071952, 7599217, 7770132, 7635294, 7977345, 7599218, 9150158, 10936107, 16773565, 16759180, 17684475, 11339587, 23563965, 8899049, 8593537, 16050984, 15972314, 10737123, 16132471, 18445251, 18461138, 10545708, 19383124, 21457906 2026 4.75 272 5001 A AA frameshift - + Developmental delay, seizure, cardiomyopathy, lactic acidosis Reported 23463613, 23288206 0 0.00 279 5134 AAA A frameshift . . Exercise intolerance (EXIT) Reported 12192017, 16815877, 23376095, 19273755, 23838278 0 0.00 138 5178 C A L-M + - Longevity; Extraversion MI / AMS protection; blood iron metabolism Reported; haplogroup D marker 12391595, 10996007, 9449878, 11735027, 12782420, 11573146, 12375058, 15126279, 12384792, 16271520, 15211636, 15262184, 20555337, 19667492, 20306229, 21319252, 21385625, 18468491 2053 4.82 15 5244 G A G-S - + LHON Reported 8680405, 1634041, 7770132, 7760326, 7599218, 15972314, 21457906 0 0.00 160 5452 C T T-M + - Progressive Encephalomyopathy Reported 15286228 13 0.03 17 5460 G T A-S + + AD Reported 1370613, 1352971, 8093052, 15972314, 19703591 0 0.00 16 5460 G A A-T + + AD / PD P.M. 1370613, 1352971, 8093052, 8937782, 16773565, 8723226, 15972314, 19703591 2654 6.23 283 5514 A G + - Neonatal onset mito disease Reported 22638997 27 0.06 54 5521 G A - + Mitochondrial myopathy Cfrm 9673981, 10611124, 23847141, 23841600 0 0.00 329 5522 G A - + Mitochondrial myopathy Reported 23232693 0 0.00 192 5523 T G - + Leigh Syndrome Reported 19349200 0 0.00 105 5532 G A - + Gastrointestinal Syndrome Reported 15054399, 19718780 1 0.00 55 5537 A AT - + Leigh Syndrome Cfrm 9266739, 10862082, 12776230, 14681757, 20064630 0 0.00 330 5538 G A - + Encephalomyopathy Reported 20708751 0 0.00 56 5540 G A - + Encephalomyopathy / DEAF Reported 10762520, 23847141, 15126302 0 0.00 294 5541 C T - + MELAS+stroke-like episodes and cortical blindness+MRI shows occipital lobe infarct Reported 23696415 0 0.00 154 5543 T C - + Mitochondrial myopathy Reported 11506394, 15670724, 21712854, 19718780, 19273755 0 0.00 160 5545 C T - + HCM severe multisystem disorder Reported 18337306 0 0.00 57 5549 G A - + DEMCHO Reported 7695240 0 0.00 281 5556 G C - + Mito encephalomyopathy Reported 19744136 0 0.00 279 5556 G A - + Combined OXPHOS defects Reported 19809478 0 0.00 193 5559 A G - + Leigh Syndrome Reported 19349200 0 0.00 168 5567 T C - + Myopathy Reported 18977334, 21364701 36 0.08 173 5568 A G + - DEAF Reported 15292920 6 0.01 208 5587 T C + - Possible DEAF modifier Reported 20153673 25 0.06 130 5591 G A - + Myopathy Reported 19718780 0 0.00 315 5592 A G + - Coronary Heart Disease Reported 16947981, 24470521 23 0.05 322 5613 T C - + CPEO Reported 27014581 0 0.00 58 5628 T C - + CPEO / DEAF enhancer Reported 11404121, 16947981, 17434445 78 0.18 238 5636 T C - + PEO Reported 20813205 0 0.00 151 5650 G A - + Myopathy Cfrm 17825557, 25652200, 11715067, 19718780 1 0.00 148 5655 T C + - DEAF enhancer Reported 14960712 292 0.69 326 5658 T C - + Mitochondrial myopathy Reported 23375258 0 0.00 295 5690 A G - + CPEO+ptosis+proximal myopathy Cfrm 23696415, 23847141 0 0.00 59 5692 T C - + CPEO / MM Reported 8129854, 7980504, 9384601, 11335700 0 0.00 176 5693 T C + - Encephalomyopathy Reported 15752774 0 0.00 60 5698 G A - + CPEO / MM Reported 11335700, 18977334, 15564038, 20064630 1 0.00 61 5703 G A - + CPEO / MM Cfrm 8254046, 9372914, 14518831, 20064630, 19718780 0 0.00 320 5709 T C - + Ophthalmoparesis+respiratory impairment Reported 22189266 0 0.00 138 5728 T C - + Multiorgan failure Reported 16908752 1 0.00 140 5780 G A - + SNHL Reported 12802679 11 0.03 136 5783 G A - + Myopathy deafness Reported 16955414 30 0.07 158 5802 T C + - DEAF1555 increased penetrance Reported 18386806, 19818876 0 0.00 62 5814 T C - + Mitochondrial Encephalopathy L2b marker 9384601, 8829635, 11335700, 9185178, 16947981, 16172508, 16132471, 18977334, 20064630 126 0.30 149 5816 A G + - Progressive Dystonia Reported 17886296, 25652200, 17724295 0 0.00 194 5821 G A + - DEAF helper mut. Reported 23563965, 16364244, 16955413, 19818876 246 0.58 114 5843 A G + - FSGS / Mitochondrial Cytopathy Reported 14598342 196 0.46 63 5874 T G - + EXIT Reported 11071502 0 0.00 101 5911 C T A-V + - Prostate Cancer Reported 15647368 192 0.45 102 5913 G A D-N + - Prostate Cancer / hypertension Reported 15647368, 25701779, 22949535 420 0.99 18 5920 G A W-Ter - + Myoglobinuria / EXIT Reported 10980727, 14520667, 11506394, 11782982 0 0.00 103 5935 A G N-S + - Prostate Cancer Reported 15647368 1 0.00 104 5973 G A A-T + - Prostate Cancer Reported 15647368 8 0.02 137 6020 CGAGC del AELGQ-AGPATer - + Motor Neuron Disease Reported 9450776 0 0.00 105 6081 G A A-T + - Prostate Cancer Reported 15647368 1 0.00 106 6150 G A V-I + - Prostate Cancer / enriched in POAG cohort Reported 15647368, 27217714 204 0.48 96 6253 T C M-T + - Prostate Cancer / enriched in POAG cohort Reported 16892079, 15647368, 27217714 430 1.01 98 6261 G A A-T + - Prostate Cancer / LHON Reported 16892079, 15647368, 17003408 307 0.72 107 6267 G A A-T + - Prostate Cancer Reported 15647368 66 0.15 108 6285 G A V-I + - Prostate Cancer Reported 15647368 114 0.27 184 6328 C T S-F + - EXIT (Exercise Intolerance) Reported 16284789, 21457906 0 0.00 97 6340 C T T-I + - Prostate Cancer Reported 16892079, 15647368 75 0.18 109 6480 G A V-I + - Prostate Cancer / enriched in POAG cohort Reported 19022198, 15647368, 21457906, 27217714 131 0.31 19 6489 C A L-I - + Therapy-Resistant Epilepsy Reported 12140182, 21457906 70 0.16 267 6597 C A Q-K - + MELAS-like syndrome Reported 22832341 0 0.00 99 6663 A G I-V + - Prostate Cancer Reported 16892079, 15647368, 27217714 143 0.34 190 6698 A : K-fs-Ter - + Myopathy Reported 18977334 0 0.00 123 6708 G A G-Ter - + MM & Rhabdomyolysis Reported 15751226 0 0.00 90 6721 T C M-T - + Acquired Idiopathic Sideroblastic Anemia Reported 9389715, 21457906 0 0.00 91 6742 T C I-T - + Acquired Idiopathic Sideroblastic Anemia Reported 9389715, 21457906 0 0.00 20 6930 G A G-Ter - + Multisystem Disorder Reported 10441567, 20547844, 11595737 0 0.00 183 6955 G A G-D + + Mild EXIT and MR Reported 18484665 1 0.00 321 6962 G A L-L + - Possible helper variant for 15927A Reported 24470521 867 2.03 216 7023 G A V-M - + MELAS-like syndrome Reported 19568996 0 0.00 110 7041 G A V-I + - Prostate Cancer Reported 15647368 5 0.01 111 7080 T C F-L + - Prostate Cancer Reported 15647368 40 0.09 112 7083 A G I-V + - Prostate Cancer Reported 15647368 15 0.04 113 7158 A G I-V + - Prostate Cancer Reported 15647368 29 0.07 114 7305 A C M-L + - Prostate Cancer Reported 15647368 0 0.00 282 7402 C : frameshift: P-HPTTHSKNPYTX - + Isolated complex IV deficiency Reported 24667782 0 0.00 87 7443 A G Ter-G + - DEAF Reported 10577941, 16361254, 10739773, 20064630 1 0.00 21 7444 G A Ter-K + - LHON / SNHL / DEAF Reported 8680405, 1732158, 1322638, 7901141, 8240356, 8060346, 7770132, 7710535, 7599218, 10520236, 12749053, 10577941, 16152638, 16500624, 16361254, 17698030, 10739773, 19371214, 19818876, 20064630, 8600429, 21056478, 17489842, 21621438 146 0.34 88 7445 A C Ter-S + - DEAF Reported 10577941, 16361254, 18402672, 10739773, 20064630 10 0.02 166 7445 A T + - SNHL Reported 18639500 2 0.00 89 7445 A G Ter-Ter + + SNHL Cfrm 8019558, 7987332, 7994888, 9247714, 9450881, 9742104, 10936107, 10220138, 18674747, 12655418, 10905659, 10577941, 8572257, 15126302, 15694374, 10760311, 16361254, 11691920, 15477393, 18402672, 16132471, 11175301, 10633132, 18537605, 11215518, 15292920, 20064630, 21621438 1 0.00 134 7445 A G + + SNHL Cfrm 8019558, 7987332, 7994888, 9247714, 9450881, 9742104, 10936107, 10220138, 18674747, 12655418, 10905659, 10577941, 8572257, 15126302, 15694374, 10760311, 16361254, 11691920, 15477393, 18402672, 16132471, 11175301, 10633132, 18537605, 11215518, 15292920, 20064630, 17489842, 21621438 1 0.00 133 7445 A C + - DEAF Reported 10577941, 16361254, 18639500, 20064630 10 0.02 296 7451 A T - + CPEO+ptosis Reported 23696415 0 0.00 282 7453 G A + - Fatal neonatal lactic acidosis Reported 22453297, 24667782 0 0.00 174 7456 A G + - DEAF Unclear 15292920 1 0.00 230 7458 G A - + PEO Reported 20186009 0 0.00 243 7462 C T + - DEAF Reported 20722495 6 0.01 65 7471 C CC + + PEM / AMDF / Motor neuron disease-like Cfrm 7581383, 9708714, 9778262, 9832034, 9778273, 11378827, 11919191, 10220138, 20722495, 10094190, 10905659, 15126302, 15382008, 10760311, 15477393, 16368237, 15833431, 15482956, 18398437, 10545608, 18977334, 17637808, 11215518, 15292920, 20064630, 17489842, 19718780 7 0.02 309 7472 A CA + + PEM / AMDF / Motor neuron disease-like See 7471insC 0 0.00 157 7472 A C + - MM / DMDF modulator Reported 16368237, 15833431, 18398437 2 0.00 112 7480 T G - + MM Reported 15210164, 15477393, 19718780 0 0.00 313 7492 C T + - Hypertension Reported 26782414 8 0.02 66 7497 G A + + MM / EXIT Cfrm 9778262, 14605505, 15477393, 16199753, 20064630, 24062162 1 0.00 310 7501 T A . . Cardiovascular disease; renal disease patient Reported 24491108, 25088491, 23735083 1 0.00 207 7505 T C + - Maternally inherited hearing loss Reported 20153673 0 0.00 147 7506 G A - + PEO with hearing loss Reported 17614276 0 0.00 67 7510 T C - + SNHL Cfrm 10978361, 12471220, 10905659, 15126302, 16361254, 18252214, 11215518, 15292920, 20064630, 17489842, 24062162, 23430555, 29299381 1 0.00 68 7511 T C + + SNHL Cfrm 10371545, 12461693, 10905659, 14960712, 15126302, 15670746, 10760311, 16361254, 15477393, 18340555, 12172268, 17637808, 11215518, 15292920, 20064630, 17489842 1 0.00 69 7512 T C + + PEM / MERME Reported 7669057, 9778262, 9832034, 15126302, 16361254, 15477393, 16199753, 11215518, 15292920, 20064630 0 0.00 164 7520 G A . . Sporadic bilateral optic neuropathy Reported 18676632 0 0.00 185 7526 A G - + Mitochondrial myopathy Reported 16059939 0 0.00 323 7539 C T - + Multisystemic mitochondrial disorder Reported 25447692 0 0.00 70 7543 A G - + MEPR Reported 10488907 37 0.09 297 7554 G A - + Myopathy+ataxia+nystagmus+migraines+lactic acidosis Reported 23696415 1 0.00 22 7587 T C M-T - + Mitochondrial Encephalomyopathy Reported 10205264, 21457906 0 0.00 269 7598 G A A-T - + Possible LHON helper variant Reported 16418878, 27498855 580 1.36 146 7623 C T T-I + - LHON Reported 17003408 0 0.00 193 7637 G A E-K - + PD risk factor Reported 19076426 2 0.00 23 7671 T A M-K - + MM Reported 10486321, 21457906 0 0.00 262 7697 G A V-I + - Possible HCM susceptibility Reported 19473338, 23563965, 27498855 242 0.57 224 7706 G A A41T + Alpers-Huttenlocher-like Reported 12612282 8 0.02 161 7859 G A D-N + - Progressive Encephalomyopathy Reported 15286228 132 0.31 198 7868 C T L-F + - LHON Possibly synergistic 19497304 16 0.04 175 7877 A C K-Q + - PEG glaucoma Reported 18246027 0 0.00 24 7896 G A W-Ter - + Multisystem Disorder Reported 11558799 0 0.00 139 7970 G T E-Ter - + Encephalopathy Reported 16288875 0 0.00 92 7989 T C L-P - + Rhabdomyolysis Reported 17886296, 14733964 0 0.00 273 8010 T C V-A - + Developmental delay, ataxia, seizure, hypotonia, lactic acidosis Reported 23463613 2 0.00 285 8021 A G I-V + - Asthenozoospermia Reported 24931671 4 0.01 25 8042 AT : M-Ter - + Lactic Acidosis Reported 11471180 0 0.00 199 8078 G A V-I + - DEAF Reported 17637808, 22241583 26 0.06 94 8108 A G I-V + - SNHL Reported 15637703 64 0.15 341 8156 G : frameshift - + Multi-system mitochondrial disorder Reported 28521807 0 0.00 347 8249 G A G-Ter + - Mitochondrial myopathy Reported 2624428, 23841600 0 0.00 71 8296 A G + + DMDF / MERRF / HCM / epilepsy Reported 9571188, 9802769, 9932960, 10220138, 11406419, 12504210, 15126302, 15477393, 15100439, 18651333, 10525672, 15554876, 10737988, 11857739, 19370763, 24689073 33 0.08 321 8299 G A - + PEO + respiratory impairment Reported 22326363 0 0.00 72 8302 A T + - Encephalopathy Unclear 11335700 0 0.00 298 8304 G A - + Epilepsy+ataxia+visual disturbance+deafness Reported 23696415 0 0.00 308 8306 T C - + Severe adult-onset multisymptom myopathy Reported 23847141, 22925535 0 0.00 260 8311 T C + - Poss. hypertension factor Reported 19778529 46 0.11 73 8313 G A - + MNGIE / Progressive mito cytopathy Reported 9380435, 12737626, 15477393, 15100439, 19618438 1 0.00 132 8316 T C - + MELAS Reported 15477393, 15100439, 10996780 0 0.00 291 8319 A G - + Kearns-Sayre syndrome Reported 23463613 0 0.00 118 8326 A G - + Mitochondrial Cytopathy Reported 12406974, 12400067, 15477393 0 0.00 74 8328 G A - + Mito Encephalopathy / EXIT with myopathy and ptosis Reported 10090475, 15477393, 15100439, 17410322, 19718780 0 0.00 242 8332 A G + - Dystonia and stroke-like episodes Reported 19930207 0 0.00 261 8337 T C + - Poss. hypertension factor Reported 19778529 167 0.39 232 8340 G A - + Myopathy / Exercise Intolerance / Eye disease+SNHL Reported 19941338, 23376095, 23838278, 24161205 0 0.00 75 8342 G A - + PEO and Myoclonus Reported 10220860, 15477393, 15100439, 19718780 0 0.00 171 8343 A G + - Possible PD risk factor Reported 19076426 32 0.08 76 8344 A G - + MERRF; Other - LD / Depressive mood disorder / leukoencephalopathy / HiCM Cfrm 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, 10426322, 11160915, 8622733, 10862082, 10939569, 10611124, 11335700, 11074292, 16947981, 15619607, 15164143, 17236134, 17886296, 17053148, 18674747, 16483543, 16815877, 16120315, 22411789, 23390135, 23297368, 25192510, 25652200, 26995359, 26404827, 12471464, 12661941, 12876264, 14639582, 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, 24062162 3 0.01 262 8347 A G + - Poss. hypertension factor Reported 19778529, 24689073 18 0.04 77 8348 A G + + Cardiomyopathy / SNHL / poss. hypertension factor Reported 11446509, 15477393, 15100439, 18252214, 16337222, 20064630, 19778529, 20111055 90 0.21 78 8355 T C - + Myopathy Reported 11335700, 15477393 0 0.00 79 8356 T C - + MERRF Cfrm 1361099, 8069654, 7739567, 16483543, 25192510, 15477393, 15100439, 16132471, 20064630, 20610441 0 0.00 102 8361 G A - + MERRF Reported 25192510, 14681892, 15477393 0 0.00 80 8362 T G - + Myopathy Reported 11335700, 23847141, 15477393, 15100439 0 0.00 81 8363 G A - + MICM+DEAF / MERRF / Autism / LS / Ataxia+Lipomas Cfrm 8651277, 9052804, 9932960, 21263444, 25192510, 10868777, 11108511, 15477393, 15100439, 18176892, 18319067, 15554876, 10102446, 19278689, 19370763, 16326995, 20064630, 19718780 0 0.00 171 8381 A G T-A + - MIDD / LVNC cardiomyopathy-assoc. Reported 11062027, 15452396 9 0.02 254 8393 C T P-S - + Reversible brain pseudoatrophy Reported 17101920, 21457906 154 0.36 278 8403 T C I-T + - Episodic weakness and progressive neuropathy Reported 24153443 1 0.00 251 8411 A G M-V + - Severe mitochondrial disorder Reported 20207608 2 0.00 258 8414 C T L-F + - Longevity Reported 18468491 1711 4.01 311 8481 C T P-L + - Tetralogy of Fallot patient Reported 23735083 3 0.01 305 8519 G A E-K + - Susceptibility to bullous pemphigoid Reported 25941154 103 0.24 314 8527 A G ATP8:K-K; ATP6:M(start)-V + - Neuromuscular disorder, possible helper mutation Reported 26993169 145 0.34 233 8528 T C ATP8:W-R; ATP6:M(start)-T + + Infantile cardiomyopathy Cfrm 19188198, 21457906, 26803244 0 0.00 234 8529 G A ATP8:W-X; ATP6:M-M + - Apical HCM Reported 17954552 0 0.00 229 8558 C T ATP8:P-S; ATP6:A-V + - Possibly LVNC cardiomyopathy-associated Reported 20211276 12 0.03 318 8561 C G ATP8:P-A; ATP6:P-R + + Ataxia w neuropathy, DM, SNHL, and hypogonadism Reported 27502083 0 0.00 342 8611 C CC frameshift - + Ataxia, microcephaly, developmental delay, intellectual disability Reported 28412374 0 0.00 344 8618 T TT truncated protein - + NARP Reported 19124644 0 0.00 244 8668 T C W-R + - LHON Reported 20454697 32 0.08 270 8719 G A G-Ter - + Suspected mito disease Reported 23463613 0 0.00 226 8741 T G L-R - + MILS protective factor Reported 19433277 0 0.00 159 8794 C T H-Y + - Exercise Endurance / Coronary Atherosclerosis risk Reported 15126279, 21099167 1255 2.94 227 8795 A G H-R - + MILS protective factor Reported 19433277 0 0.00 147 8836 A G M-V + - LHON Reported 17003408, 21457906 117 0.27 145 8851 T C W-R + + BSN / Leigh syndrome Cfrm 8554662, 24002810, 21457906, 21470976, 23206802 3 0.01 320 8890 A G K-E - + Juvenile-onset metabolic syndrome Reported 23921547 0 0.00 100 8932 C T P-S + - Prostate Cancer / Neuromuscular disorder Reported 18850577, 15647368, 26993169 146 0.34 134 8950 G A V-I + - LDYT Reported 16196519, 18495510 56 0.13 319 8969 G A S-N - + Mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) Reported 25037980 0 0.00 27 8993 T C L-P - + NARP / Leigh Disease / MILS / other Cfrm 8395787, 8190310, 9568930, 9701486, 9762610, 9870208, 8687192, 10417290, 10862082, 11074292, 23297368, 25192510, 26404827, 15324306, 10222646, 17568559, 18402672, 15466086, 18496570, 18055910, 16532470, 20064630, 20123042, 19747204, 17403843, 21457906, 24153443, 16049925, 24642831 2 0.00 26 8993 T G L-R - + NARP / Leigh Disease / MILS / other Cfrm 8095070, 1539598, 2137962, 1442494, 8240109, 8042671, 8435424, 8250532, 1436530, 1550128, 8476414, 8078883, 8505474, 7529982, 7605802, 7798979, 7603783, 9568930, 9222207, 9686360, 9870208, 8687192, 8830176, 10426322, 10417290, 10092618, 10862082, 10611124, 11925565, 12372991, 11074292, 14998933, 16402916, 17886296, 17545557, 17257906, 18261463, 18413591, 17518546, 17170133, 18674747, 18850577, 16483543, 20471050, 20854934, 21550418, 20138159, 22080835, 23297368, 19891062, 25192510, 28385334, 28385333, 26404827, 11076946, 15647368, 8751860, 16050991, 9858860, 16402916, 16525806, 17452590, 17568559, 18256697, 18402672, 18241671, 10611123, 11331900, 18496570, 16337222, 18647627, 19370763, 19433277, 16532470, 20064630, 20123042, 19747204, 15753359, 17403843, 21457906, 8858707, 11453454, 21120938, 15282179, 24642831, 25009317, 25152966, 27206685, 27209570 6 0.01 124 9016 A G I-V - + LHON Reported 16050984, 17123466 6 0.01 222 9035 T C L-P + + Ataxia syndromes Cfrm 19626676, 22577227 0 0.00 221 9055 G A A-T + - PD protective factor Reported 12618962, 16773565 1887 4.43 230 9058 A G T-A + - Possibly LVNC cardiomyopathy-associated Reported 20211276 18 0.04 306 9071 C T S-L + - Potentially functional variant cosegregating with LHON3635A Reported 23304069 10 0.02 228 9098 T C I-T + - Predisposition to anti-retroviral mito disease Reported 19947808 50 0.12 28 9101 T C I-T + - LHON Reported 7726182, 27498855, 16132471, 21457906 35 0.08 343 9127 AT : IL-PTer - + NARP Reported 29054413 0 0.00 338 9134 A G E-G nr nr Hypotonia, lactic acidosis, HCM, IUGR Reported 22231385 0 0.00 173 9139 G A A-T + - LHON Reported - possibly synergistic 18216301 32 0.08 30 9176 T G L-R - + Leigh Disease / Spastic Paraplegia Cfrm 11119722, 11382202, 18402672, 11731285 1 0.00 29 9176 T C L-P + + FBSN / Leigh Disease Cfrm 7668837, 9270604, 9501263, 9631394, 10862082, 20074547, 16120341, 18402672, 19370763, 20064630, 19747204, 20056103, 15753359, 20656066, 21457906, 21819970, 24153443, 24642831 3 0.01 132 9185 T C L-P + + Leigh Disease / Ataxia syndromes / NARP-like disease Cfrm 16217706, 23847141, 18461509, 17352390, 19747204, 21473984, 21457906, 22577227, 24153443, 20546952, 25548692, 22933740 3 0.01 133 9191 T C L-P - + Leigh Disease Reported 16217706 0 0.00 83 9205 TA : Ter-M + - Encephalopathy / Seizures / Lacticacidemia Cfrm 24667782, 12915481, 18221507, 14585098, 16326995, 8739943, 15265003 0 0.00 304 9267 G C A-P - + MIDD Reported 25701779 0 0.00 188 9379 G A W-Ter - + MM w lactic acidosis Reported 12414820 0 0.00 286 9387 G A V-M - + Asthenozoospermia Reported 23645088 0 0.00 31 9438 G A G-S + - LHON Conflicting reports 8037217, 8037201, 8240356, 7804416, 8053461, 7710535, 7599218, 7573056, 10520236, 16132471, 18161625, 21457906 500 1.17 250 9478 T C V-A - + Leigh Disease Reported 20525945 17 0.04 144 9480 TTTTTCTTCGCAGGA del FFFAG-del - + Myoglobinuria Reported 8630495, 20854934, 11506394, 10788526, 11782982 0 0.00 32 9537 C CC Q-frameshift + - Leigh Disease Reported 11063732, 18977334 0 0.00 187 9544 G A G-E . . Sporadic bilateral optic neuropathy Reported 18676632 0 0.00 264 9559 C : P-frameshift-Ter - + Rhabdomyolysis Reported 21163656 0 0.00 148 9660 A C M-L + - LHON Reported 17003408 0 0.00 33 9738 G T A-S + - LHON Reported 7804416 0 0.00 140 9789 T C S-P - + Myopathy Reported 16288875 0 0.00 34 9804 G A A-T + - LHON Reported 8240356, 7710535, 7599218, 10520236, 11339587, 16132471, 21457906, 23735083 113 0.27 155 9861 T C F-L + - AD Reported 16358358 67 0.16 35 9952 G A W-Ter - + Mitochondrial Encephalopathy Reported 9634511 0 0.00 36 9957 T C F-L - + PEM / MELAS / NAION / HCM Reported 7496173, 10065021, 15823923, 18587274, 21249588, 15282179 27 0.06 219 9972 A C I-L - + EXIT & APS2 - possible link Reported 19460300 1 0.00 82 9997 T C - + MHCM Reported 8079988, 10090480, 15477393, 20064630 1 0.00 83 10006 A G + - CIPO / Encephalopathy Unclear 1709275, 8129854, 11335700, 15477393 6 0.01 84 10010 T C - + PEM Cfrm 9199564, 17886296, 23847141, 25652200, 16120360, 11971101, 15477393, 10611123, 20064630 0 0.00 85 10014 G A + - Myopathy Unclear 11335700 0 0.00 86 10044 A G - + SIDS Unclear 8888049, 12160969, 16947981, 16773565, 15477393, 10598821, 15466077 116 0.27 277 10086 A G N-D + - Hypertensive end-stage renal disease Reported 23563965, 11532685, 27217714 396 0.93 82 10158 T C S-P + + Leigh Disease / MELAS Cfrm 14764913, 14684687, 14705112, 15972314, 17152068, 18402672, 15576045, 15372108, 18977334, 20064630, 20972245, 21457906, 24642831, 21364701, 28050007, 28883258 0 0.00 37 10191 T C S-P - + Leigh Disease / Leigh-like Disease / ESOC Cfrm 11456298, 17535832, 23847141, 14684687, 14705112, 15972314, 17152068, 17413873, 18402672, 15576045, 18977334, 19617458, 20064630, 20226758, 20972245, 21457906, 16044424, 24642831, 21364701, 16023078 0 0.00 157 10197 G A A-T + + Leigh Disease / Dystonia / Stroke / LDYT Cfrm 19458970, 17152068, 17413873, 15372108, 18800376, 18977334, 20064630, 20972245, 21364701 4 0.01 136 10237 T C I-T + - LHON Reported 12227465 59 0.14 303 10254 G A D-N - + Leigh Disease Reported 20202874 0 0.00 128 10398 A A T-T + - Invasive Breast Cancer risk factor; AD; PD; BD lithium response; Type 2 DM Reported; haplogroup HNTUVWXK2 marker 16140977, 16892079, 16895436, 17081685, 26782384, 14604458, 15234467, 17701054, 17288645, 18262047, 15211636, 18177933, 17066297, 17390150, 16452251, 27217714, 19763141 0 0.00 165 10398 A G T-A + - PD protective factor / longevity / altered cell pH / metabolic syndrome / breast cancer risk / ADHD Reported; haplogroup IJK marker 12618962, 15827561, 15786469, 16140977, 15483642, 16773565, 16895436, 15975594, 17510395, 18679013, 12670626, 17701054, 17288645, 18262047, 18286226, 18226984, 18177933, 20067846, 19390621, 15488317, 17627010, 17886251, 20043118, 18709563, 21457906, 17174475, 27217714, 28793231 18887 44.32 150 10406 G A - + Mitochondrial myopathy Reported 21263444, 17588757 0 0.00 277 10437 G A - + Mitochondrial myopathy Reported 22781096 0 0.00 146 10438 A G - + Progressive Encephalopathy Reported 15286228 0 0.00 280 10450 A G - + Combined OXPHOS defects & severe multisystem disorder Reported 19809478 0 0.00 181 10454 T C + - DEAF helper mut. Reported 27498855, 16955413, 19818876 157 0.37 149 10543 A G H-R - + LHON Reported 17003408 0 0.00 150 10591 T G F-C - + LHON Reported 17003408 0 0.00 202 10652 T C syn - + BD / MDD-associated Reported 19290059 52 0.12 38 10663 T C V-A + - LHON Cfrm 8680405, 11935318, 16523671, 22879922, 15972314, 17003408, 18402672, 19001017, 21457906 1 0.00 197 10680 G A A-T + - LHON Reported - possibly synergistic 19394449, 20643099 17 0.04 39 11084 A G T-A + + AD, PD; MELAS Reported; P.M. 1323207, 8213827, 23563965, 15972314, 21457906, 18468491 175 0.41 78 11232 T C L-P - + CPEO Reported 14581685, 15972314, 18402672 0 0.00 322 11240 C T L-F - + Leigh Syndrome Reported 27761019 0 0.00 143 11253 T C I-T + - LHON; PD Reported 12150954, 12271374, 10737123, 19001017 226 0.53 260 11365 T C syn + - found in 1 HCM patient Reported 16266762 102 0.24 309 11375 A C K-Q + - found in 1 sCJD patient Reported 24667788 0 0.00 211 11467 A G syn + - Altered brain pH / sCJD patients Reported 16773565, 19290059, 24667788 5378 12.62 346 11470 A C K-N - + MELAS Reported 21850008 0 0.00 275 11621 TA del frameshift - + CPEO, exercise intolerance Reported 23463613 0 0.00 40 11696 G A V-I + + LHON / LDYT / DEAF / hypertension helper mut. Reported - possibly synergistic 8644732, 16364244, 15972314, 17300996, 19818876, 19001017, 17123466, 17922426, 21482521, 21457906 236 0.55 77 11777 C A R-S - + Leigh Disease Cfrm 16120329, 12707444, 15972314, 18402672, 15576045, 18977334, 20064630, 20502985, 21457906, 24642831 0 0.00 41 11778 G A R-H + + LHON / Progressive Dystonia Cfrm 2390098, 8680405, 1937476, 8448903, 1866007, 8240101, 8457609, 8255489, 1895564, 2575667, 2817063, 1734726, 8023847, 8118464, 7901141, 2286378, 1770665, 8320863, 2222273, 1900003, 8213820, 1444915, 8240103, 8270249, 8024249, 8023848, 1763894, 2346190, 1959619, 8250088, 8103501, 1353825, 8474822, 1635296, 8449667, 8489411, 2039048, 8053461, 2346203, 7916404, 8101084, 8401538, 8071952, 1575231, 8071960, 1770533, 2566116, 8240102, 8195807, 1977373, 1532593, 1352537, 2757028, 3201231, 8489402, 2566021, 1346348, 7617199, 7926004, 7599217, 7853025, 7770132, 7611298, 7635294, 7603534, 7924787, 7821467, 7832241, 7601652, 7649539, 7823072, 8165962, 7710535, 7629530, 7617193, 7977345, 7639060, 7735876, 7760326, 7814218, 7599218, 7801223, 7763260, 7612556, 9012411, 8659512, 9125387, 9302261, 9541428, 9412783, 9685604, 9541429, 9150158, 8662757, 10413253, 10520236, 8755941, 10426138, 11169561, 11754070, 10939569, 10611124, 12402249, 12402246, 12436196, 12560876, 11074292, 12446713, 12464729, 12379308, 16083845, 16431939, 16532388, 16380918, 17886296, 18216301, 18363168, 18674747, 18771762, 11339587, 20728388, 17197509, 20471050, 21253496, 11001192, 17573650, 17296905, 19710181, 19525327, 19936068, 20837795, 20435583, 15883259, 21414825, 21788663, 21810891, 22039503, 22110754, 22194643, 15342361, 22410442, 15629832, 15629831, 21887510, 23297368, 7745422, 23847141, 25192510, 25053773, 26438859, 26647310, 26959136, 27847334, 28040497, 28233183, 28481993, 28093355, 26404827, 14750573, 15026512, 14671420, 15126312, 15060117, 12409182, 14620678, 16120371, 15707996, 11523562, 8931573, 15896721, 16050984, 8941270, 15972314, 16617593, 16624503, 16528519, 17003408, 17366829, 17460303, 17479363, 17724295, 8556281, 12464728, 17072496, 18363168, 18214789, 18320530, 15804271, 11331900, 12185132, 15548492, 10636656, 11162998, 16120433, 18070226, 18676632, 19026397, 15282189, 16829155, 17406640, 16972023, 15838728, 15728653, 18647627, 16120317, 10545708, 17300996, 16564802, 18619472, 19370763, 19319978, 10216058, 12888043, 11124301, 17942074, 18775412, 20064630, 20123042, 19001017, 8600429, 8867076, 19268652, 20599858, 20211598, 20676915, 20454697, 20943885, 21067478, 20809775, 20232220, 19726426, 17292333, 19098324, 16148621, 11754915, 19255150, 16705513, 18806273, 20691156, 16477364, 20407791, 19800080, 19247386, 21063443, 21482521, 15720387, 20111055, 18848389, 21457906, 12815198, 16044424, 17204919, 21694444, 21397051, 20632027, 15282179, 22108605, 24404670, 26605371, 27746671, 27177320, 29049835, 27787713, 29116953, 29047345 118 0.28 42 11832 G A W-Ter - + EXIT / oncocytoma Reported 10360780, 15972314, 18402672, 11506394, 11782982, 20028790 0 0.00 151 11874 C A T-N + - LHON Reported 17003408 0 0.00 119 11919 C T S-F + - Thyroid Cancer Cell Line Reported 15608681 0 0.00 178 11994 C T T-I + - Oligoasthenoteratozoospermia (OAT) Conflicting reports 17517394, 17069814 0 0.00 43 12026 A G I-V + - DM Reported 9519725, 15972314 210 0.49 213 12027 T C I-T . . SZ-associated Reported 19290059, 14623372 2 0.00 316 12146 A G + + MELAS Reported 21704194 0 0.00 108 12147 G A - + MERRF-MELAS / Encephalopathy Cfrm 16483543, 14967777, 15111688, 20064630, 19718780 0 0.00 292 12148 T C - + Developmental delay, optic atrophy, cataract, hearing loss, myopathy Reported 23463613 1 0.00 87 12183 G A - + RP + DEAF Reported 12682337, 19718780 1 0.00 307 12187 C A + - Asthenozoospermia Reported 24931671 0 0.00 88 12192 G A + - MICM Reported 10621222, 12560876 99 0.23 286 12201 T C - + Maternally inherited non-syndromic deafness Reported 21931169 0 0.00 299 12206 C T - + MELAS-like encephalopathy+bilateral optic atrophy Reported 23696415 0 0.00 137 12207 G A - + Myopathy / Encephalopathy Reported 12406974, 16950817 0 0.00 195 12224 C T + - DEAF helper mut. Reported 19818876 0 0.00 180 12236 G A + - DEAF Reported 23563965, 23847141, 17637808, 22241583 327 0.77 89 12246 C A nd nd CIPO Reported 1709275, 8129854 3 0.01 90 12258 C A - + DMDF / RP+SNHL Cfrm 9792552, 10090882, 25652200, 15126302, 17653689, 19718780 1 0.00 285 12261 T C - + Myopathy+epilepsy+retinal degeneration+DEAF Reported 22378285 0 0.00 276 12262 C A - + Progressive MM+Deafness+Seizures Reported 21257182 0 0.00 275 12264 C T + + Multisystem Disease with Cataracts / Myopathy+epilepsy+DEAF+atypical autism Reported 22369973, 22378285 0 0.00 159 12276 G A - + CPEO Cfrm 23847141, 15591266, 15649400 1 0.00 236 12283 G A - + CPEO Reported 25652200, 19853445 1 0.00 101 12294 G A - + CPEO Reported 14581685 0 0.00 111 12297 T C + + Dilated Cardiomyopathy / LS / Failure to Thrive & LA Reported 21882289, 11313776, 20064630, 19062322, 10602359 32 0.08 139 12299 A C - + MELAS Reported 17092464 0 0.00 152 12300 G A - + 3243 suppressor mutant Reported 9537417, 9817933, 10628996, 15328906 0 0.00 91 12308 A G + + CPEO / Stroke / CM / Breast & Renal & Prostate Cancer Risk / Altered brain pH /sCJD Hg K & U marker 8155739, 1709275, 1757091, 8079988, 8254046, 1910259, 1542564, 9384601, 11145497, 11406419, 16947981, 16773565, 16406974, 19290059, 18502698, 24667788, 14571278, 11313776, 18709563 5359 12.58 92 12311 T C + + CPEO Reported 7525879, 7804130, 16947981 52 0.12 99 12313 T C - + FSHD Reported 18343111 0 0.00 93 12315 G A - + CPEO / KSS Cfrm 9361028, 8923013, 10332036, 12398839, 18977334, 20064630, 19718780 0 0.00 165 12316 G A - + CPEO Cfrm 23847141, 18603265 0 0.00 300 12317 T C - + CPEO+ptosis+myopathy+exercise intolerance+diabetes Reported 23696415 1 0.00 94 12320 A G - + MM Reported 9012410, 9207784, 17886296, 25652200, 10611123, 19718780 0 0.00 179 12338 T C M-T + - DEAF1555 increased penetrance / LHON Conflicting reports 21131053, 15278763, 18386806, 19818876, 21482521, 21724059, 21419139 128 0.30 265 12361 A G T-A + - Non-alcoholic fatty liver disease Reported 22153811 239 0.56 210 12372 G A syn + - Altered brain pH / sCJD patients Reported 16773565, 19290059, 24667788 5778 13.56 255 12397 A G T-A + - PD, early onset Reported 21457906, 18524835 276 0.65 241 12425 A : N-frameshift - + Mitochondrial Myopathy & Renal Failure Reported 20018511 2 0.00 261 12477 T C syn + - possible HCM susceptibility Reported 16266762 238 0.56 247 12622 G A V-I + + Leigh Disease Significance unclear 17400793 10 0.02 310 12631 T A S-T + - found in 2 sCJD patients Reported 24667788, 23735083 0 0.00 115 12634 A G I-V + - Thyroid Cancer Cell Line Reported 27498855, 15608681 122 0.29 84 12706 T C F-L - + Leigh Disease Cfrm 23847141, 14684687, 11938446, 15972314, 18402672, 20064630, 21457906, 17317336, 21364701 0 0.00 85 12770 A G E-G - + MELAS Reported 12509858, 15972314, 18332249, 21457906 1 0.00 152 12782 T G I-S - + LHON Reported 17003408 0 0.00 236 12811 T C Y-H + - Possible LHON factor Reported 7901141, 19022198, 8600429, 23304069 460 1.08 129 12848 C T A-V - + LHON Reported 16240359, 19001017, 21457906 0 0.00 156 13042 G A A-T - + Optic neuropathy/ retinopathy/ LD Cfrm 15382008, 16816025, 18332249, 15767514, 17400793, 21457906 1 0.00 86 13045 A C M-L - + MELAS / LHON / Leigh overlap syndrome Reported 12509858, 15972314, 18332249, 21457906 0 0.00 345 13046 T C M-T - + LHON/MELAS overlap syndrome Reported 26894521 0 0.00 126 13051 G A G-S + - LHON Cfrm 12736867, 27164671 0 0.00 163 13063 G A V-I - + Adult-onset Encephalopathy / Ataxia Reported 17535832, 18332249, 18977334 2 0.00 44 13084 A T S-C - + MELAS / Leigh Disease Reported 12796552, 15972314, 18332249, 21457906 0 0.00 191 13094 T C V-A + + Ataxia+PEO / MELAS, LD, LHON, myoclonus, fatigue Cfrm 18977334, 22577219, 22249460, 21364701, 29479304, 29506874 1 0.00 263 13135 G A A-T + - possible HCM susceptibility Reported 19473338 400 0.94 276 13271 T C L-P - + Exercise intolerance (EXIT) Reported 23065728, 18396045 1 0.00 153 13379 A C N-S + - LHON Reported 17003408 0 0.00 246 13511 A T K-M - + Leigh-like syndrome Reported 17400793 0 0.00 45 13513 G A D-N - + Leigh Disease / MELAS / LHON-MELAS Overlap Syndrome Cfrm 9299505, 10589546, 11198278, 12624137, 10908920, 18674747, 16483543, 24667782, 23847141, 25192510, 14520659, 14730434, 15382008, 15972314, 18332249, 18402672, 15576045, 18977334, 19370763, 19617458, 20064630, 19268652, 17400793, 18495510, 19054921, 20408961, 21174521, 20972245, 21457906, 24642831, 21364701 1 0.00 46 13514 A G D-G - + Leigh Disease / MELAS Cfrm 11198278, 23847141, 14684687, 15521990, 15972314, 18332249, 18402672, 15576045, 18977334, 20064630, 20972245, 21712854 0 0.00 47 13528 A G T-A + - LHON-like, LHON, MELAS Reported 11102991, 15972314, 22589247, 17940288 38 0.09 116 13580 C G A-G - + Thyroid Cancer Reported 15608681 0 0.00 238 13637 A G Q-R + - Possible LHON factor Reported 7901141, 24319328 329 0.77 48 13708 G A A-T + - LHON / Increased MS risk / higher freq in PD-ADS P.M. - haplogroup J marker 8680405, 1634041, 1732158, 8163275, 1550131, 1900003, 8213820, 1764087, 1417830, 8024249, 1463007, 8053461, 8071952, 7770132, 7635294, 7710535, 7977345, 7814218, 7599218, 7763260, 8741876, 8978068, 9561330, 9150158, 10520236, 8755941, 11935318, 12618962, 12150954, 16773565, 11339587, 27498855, 16050984, 15972314, 10737123, 18270557, 10545708, 18619472, 10424809, 10216058, 8600429, 21067478, 21288980, 21457906, 21694444, 28341142 3091 7.25 49 13730 G A G-E - + LHON Reported 8213825, 7760326, 8899049, 8593537, 15972314, 19001017, 21457906 0 0.00 117 13831 C A L-M - + Thyroid Cancer Cell Line Reported 15608681 3 0.01 192 13849 A C N-H + - MELAS Reported - possible secondary 18587274 0 0.00 239 13967 C T T-M + - Possible LHON factor Reported 7901141, 2567271, 8600429 116 0.27 307 14063 T C I-T + - Potentially functional variant cosegregating with LHON3635A Reported 23304069 24 0.06 274 14091 A T K-N - + Developmental delay, seizure, hearing loss, diabetes Reported 23463613 0 0.00 266 14163 C T A-T + - Possible deafness factor Conflicting reports 21838605, 21504270 12 0.03 125 14279 G A S-L + - LHON Reported 15922297, 19001017 6 0.01 256 14319 T C N-D + - PD, early onset Reported 21457906, 18524835 53 0.12 127 14325 T C N-D + - LHON Reported 12736867 46 0.11 95 14340 C T V-M + - SNHL Reported 15637703 20 0.05 118 14430 A G W-R + - Thyroid Cancer Reported 15608681 0 0.00 313 14439 G A P-S + - Mitochondrial Respiratory Chain Disorder Reported 25356405 0 0.00 50 14453 G A A-V - + MELAS / Leigh Disease Reported 11781695, 15972314, 21457906, 24642831, 21364701 0 0.00 51 14459 G A A-V + + LDYT / Leigh Disease Cfrm 8680405, 8016139, 7654063, 8622678, 7760326, 10072046, 10426138, 10894222, 12205655, 18674747, 22879922, 23847141, 15126312, 14520659, 14735585, 14735584, 15972314, 18402672, 20064630, 19001017, 19268652, 21067478, 21457906, 21364701 3 0.01 53 14482 C G M-I + + LHON Cfrm 9443868, 21887510, 15972314, 18402672, 20064630 0 0.00 52 14482 C A M-I + + LHON Cfrm 12112086, 12150954, 16532388, 22879922, 21887510, 15972314, 11931086, 18402672, 19319978, 19001017, 21457906 2 0.00 54 14484 T C M-V + + LHON Cfrm 8680405, 1732158, 8470982, 8213820, 1417830, 1463007, 8071952, 7853025, 7770132, 7611298, 7604366, 7635294, 7821467, 7823072, 7977345, 7735876, 7760326, 7599218, 7612556, 9012411, 8659531, 8659512, 9484365, 9339703, 9302261, 9412783, 9150158, 9177303, 9852675, 8533781, 10072046, 10520236, 7877803, 8755941, 10426138, 11754070, 11938495, 12112086, 12205655, 12436196, 12446713, 12464729, 12749053, 12827453, 12379308, 16083845, 16523671, 16532388, 16380918, 17886296, 18674747, 20074547, 11339587, 20471050, 21253496, 11001192, 19710181, 19525327, 19936068, 15883259, 21788663, 21810891, 17894548, 22194643, 15342361, 22410442, 15629832, 15629831, 21887510, 25192510, 25053773, 27847334, 28040497, 28233183, 28481993, 26404827, 14671420, 15126312, 12724691, 15060117, 15467980, 11523562, 8931573, 16050984, 15954041, 8941270, 15972314, 17479363, 12464728, 15635488, 17334960, 18214789, 18344382, 18402672, 15483043, 18320530, 11331900, 15548492, 11504997, 11450909, 16120433, 18070226, 15282189, 16829155, 17406640, 16972023, 19394449, 18440284, 16120317, 16806060, 10545708, 16564802, 19370763, 19319978, 11124301, 17942074, 20064630, 20123042, 19001017, 19268652, 20599858, 20211598, 20943885, 21067478, 20809775, 17292333, 19733221, 17403843, 19098324, 17452034, 15272763, 19255150, 18806273, 19800080, 20976138, 19247386, 15720387, 21457906, 21694444, 21397051, 15282179, 21685233, 22258525, 23674761, 26605371, 27746671, 27177320, 27787713 51 0.12 81 14487 T C M-V - + Dystonia / Leigh Disease / Ataxia / Ptosis / Epilepsy Cfrm 17535832, 24126373, 23847141, 14595656, 14520668, 14684687, 15972314, 18402672, 15576045, 18977334, 20064630, 20019223, 19062322, 16337195, 20972245, 21457906, 21196529, 15625630, 16044424, 19103152, 21364701 0 0.00 55 14495 A G L-S - + LHON Cfrm 11133798, 16380918, 22879922, 15972314, 19001017, 21457906, 21397051 1 0.00 56 14498 T C Y-C + + LHON Reported 9177303, 8854108, 15972314, 19001017 0 0.00 214 14502 T C I-V + - LHON Reported - possibly synergistic 15896721, 18440284, 20691156, 19732751 154 0.36 57 14568 C T G-S + - LHON Cfrm 9177303, 10447650, 12150954, 22879922, 12324878, 15972314, 19319978, 20064630, 19001017 6 0.01 168 14577 T C I-V - + MIDM Reported 10909988 406 0.95 58 14596 A T I-M + - LHON Reported 8644732, 15972314, 19001017, 17123466 0 0.00 164 14600 G A P-L + + Leigh Disease w/optic atrophy Reported 17535832, 23129651, 18977334 0 0.00 203 14668 C T syn + - Depressive Disorder associated Reported 19290059 1798 4.22 239 14674 T G + - Reversible COX deficiency myopathy Reported 21194154 0 0.00 216 14674 T C + - Reversible COX deficiency myopathy Cfrm 8155739, 16150714, 19720722, 21194154 7 0.02 190 14680 C A - + Mitochondrial encephalomyopathy Reported 17715279 0 0.00 327 14685 G A - + Cataracts w spastic paraparesis & ataxia Reported 23334599 0 0.00 143 14687 A G + - Mito myopathy w respiratory failure Reported 16773565, 12760436 255 0.60 184 14692 A G + - LHON helper mut. Reported 8728098 18 0.04 142 14693 A G + + MELAS / LHON / DEAF / hypertension helper Reported 16947981, 23563965, 14571459, 16364244, 16955413, 18708405, 17434142, 19818876, 19376484, 16331560, 16414144 229 0.54 145 14696 A G - + Progressive Encephalopathy Reported 15286228 39 0.09 95 14709 T C + + MM+DMDF / Encephalomyopathy / Dementia+diabetes+ophthalmoplegia Cfrm 7726154, 7726155, 9353617, 11938495, 12393175, 10392369, 10220138, 15880407, 15983868, 17886296, 25652200, 12393175, 15126302, 15048886, 15607216, 17653689, 20045353, 20064630, 22577219, 22249460 1 0.00 155 14710 G A - + Encephalomyopathy + Retinopathy Cfrm 23847141, 11506394, 15670724, 20064630, 19718780 0 0.00 306 14721 G A - + Isolated complex I deficiency Reported 24667782 0 0.00 234 14723 T C - + CPEO + Myopathy Reported 20810132, 22258525 0 0.00 141 14724 G A - + Mito Leukoencephalopathy Reported 23847141, 17266923, 19718780 0 0.00 317 14728 T C - + Late-onset mitochondrial encephalomyopathy Reported 17897888 0 0.00 144 14739 G A - + EXIT Reported 17056256, 19718780 0 0.00 59 14787 TTAA : I-frameshift - + PD / MELAS Reported 9894888 0 0.00 142 14831 G A A-T + - LHON Reported 12150954 94 0.22 215 14841 A G N-S - + LHON helper mut. Reported 19555656 8 0.02 60 14846 G A G-S - + EXIT Reported 10502593, 14520667, 11506394, 11782982, 21457906 0 0.00 61 14849 T C S-P - + EXIT / Septo-Optic Dysplasia Cfrm 11891837, 21457906, 20544923 0 0.00 289 14864 T C C-R - + MELAS Cfrm 22638077 2 0.00 235 15024 G A C-Y + - Possible DEAF modifier Reported 20153673 23 0.05 204 15043 G A syn + - MDD-associated Reported 16773565, 19290059 9992 23.45 62 15059 G A G-Ter - + MM Reported 9894887, 10502593 0 0.00 200 15077 G A E-K + - DEAF Reported 17637808, 22241583 89 0.21 63 15084 G A W-Ter - + EXIT Reported 10502593, 14520667 0 0.00 288 15092 G A G-S - + MELAS Reported 25125337 0 0.00 64 15150 G A W-Ter - + EXIT Reported 11464242 0 0.00 72 15168 G A W-Ter - + EXIT Reported 10502593, 14520667 0 0.00 291 15170 G A G-Ter - + EXIT Reported 14506725 0 0.00 65 15197 T C S-P - + EXIT Reported 11464242, 21457906 0 0.00 292 15209 T C Y-H + - Prader-Willi syndrome Reported 24771578 4 0.01 308 15237 T C I-T + - Potentially functional variant cosegregating with LHON3635A Reported 23304069 5 0.01 66 15242 G A G-Ter - + Mitochondrial Encephalomyopathy Reported 9643969, 11047755 0 0.00 67 15243 G A G-E - + HCM Reported 10453733, 23847141, 20064630 0 0.00 68 15257 G A D-N + - LHON P.M. - haplogroup J2 marker - possible helper mut. 8680405, 1634041, 1732158, 8163275, 8240104, 8417984, 7901141, 8213820, 1764087, 8321540, 1463007, 8053461, 8076942, 7770132, 7635294, 7733466, 7710535, 7977345, 7760326, 7814218, 7599218, 9561330, 9302261, 9150158, 9719386, 10520236, 8755941, 11464242, 11935318, 12483296, 12150954, 16773565, 18931934, 11339587, 23563965, 15060117, 8899049, 16050984, 18647627, 10545708, 10424809, 8600429, 21067478, 21457906 685 1.61 217 15287 T C F-L - + Possible DEAF helper mut. Further studies needed 17999439 70 0.16 237 15395 A G K-E + - Possible LHON factor Reported 19022198 2 0.00 283 15453 T C L-P + - Isolated complex III deficiency Reported 24667782 6 0.01 93 15497 G A G-S + - EXIT / Obesity Reported 12905068, 15126279, 15052619, 21457906 187 0.44 69 15498 G A G-D - + HiCM / WPW, DEAF Reported 10960495, 15126279, 20064630, 20111055, 18848389, 21457906 12 0.03 70 15498 24 bp deletion GDPDNYTL-del - + EXIT Reported 10502593, 11506394 0 0.00 79 15579 A G Y-C - + Multisystem Disorder, EXIT Cfrm 11601507, 21457906, 23376095, 23418307 0 0.00 71 15615 G A G-D - + EXIT / Antimycin resistance Reported 8910895, 8988236, 21457906 0 0.00 337 15620 C A L-I - + Leigh Syndrome helper mut Reported 24062162 0 0.00 290 15635 T C S-P + - Polyvisceral failure Reported 19563916 2 0.00 293 15649 18 bp deletion ILAMIP-del - + Multisystem Disorder, EXIT Reported 24863938 0 0.00 232 15662 A G I-V + + Complex mitochondriopathy-associated Reported 10894993 168 0.39 154 15674 T C S-P + - LHON Reported 17003408, 21196529 140 0.33 231 15693 T C M-T + - Possibly LVNC cardiomyopathy-associated Reported 20211276 460 1.08 135 15699 G C R-P - + Muscle Weakness SNHL and Migraine Reported 23847141, 16008558 0 0.00 73 15723 G A W-Ter - + EXIT Reported 10502593 0 0.00 223 15761 G A G-Ter + MM Reported 12686403 0 0.00 74 15762 G A G-E - + MM Reported 9818877 0 0.00 174 15773 G A V-M + - LHON Possibly synergistic 18216301 44 0.10 316 15784 T C syn + - POAG - potential for association Reported 24694284, 27217714, 24102601 1574 3.69 180 15800 C T Q-Ter - + EXIT / Myopathy Reported 11731284, 18977334 0 0.00 75 15812 G A V-M + - LHON Reported / Secondary 8680405, 1634041, 7901141, 1764087, 1463007, 7770132, 7635294, 7977345, 7599218, 9561330, 9150158, 15060117, 8899049, 16050984, 10894993, 8600429, 21067478, 21457906, 27217714 435 1.02 182 15908 T C + - DEAF helper mut. Reported 16955413, 19818876 101 0.24 96 15915 G A - + Encephalomyopathy Reported 8769114, 9367299 1 0.00 97 15923 A G - + LIMM / MERRF / mito disease Reported 1379415, 1645537, 8511015, 22638997 0 0.00 98 15924 A G . . LIMM P.M. 1379415, 2043137, 1645537, 10680807, 16773565, 27498855 1516 3.56 126 15927 G A + - Multiple Sclerosis / DEAF1555 increased penetrance / CHD P.M. / possible helper mutation 9113500, 10680807, 23563965, 23736300, 26782414, 8899049, 18386806, 18820594, 19818876, 24470521 386 0.91 127 15928 G A + - Multiple Sclerosis / idiopathic repeat miscarriage / AD protection P.M. / possible helper mutation 9113500, 10377009, 10680807, 16773565, 23563965, 8899049 2047 4.80 335 15933 G A + - Suspected mito disease Reported 28187756 0 0.00 206 15942 T C + - Possibly LVNC-associated Reported 20211276 365 0.86 264 15944 T : + - MM P.M. 9832049, 18178636 614 1.44 188 15950 G A + - Dopaminergic nerve cell death (PD) Reported 10369889 1 0.00 131 15951 A G + - LHON / LHON modulator Conflicting reports 19022198, 23563965, 16624503, 26000946, 21983721 321 0.75 189 15965 A G + - Dopaminergic nerve cell death (PD) Reported 10369889 8 0.02 235 15967 G A - + MERRF-like disease Reported 19273760, 19718780 0 0.00 187 15975 C T - + Ataxia+RP+deafness Reported 19223931 0 0.00 100 15990 C T - + MM Reported 8190311, 7689388, 9421512, 19718780 0 0.00 117 15995 G A - + Mitochondrial cytopathy Reported 12406974, 12400067 0 0.00 332 15998 A T - + Mitochondrial myopathy Reported 27536729 0 0.00 191 16002 T C - + Mitochondrial cytopathy Reported 11196116 0 0.00 333 16015 T C - + Mitochondrial myopathy Reported 27536729 0 0.00 305 16018 T TTCTCTGTTCTTTCAT - + Dilated cardiomyopathy (15 bp dup), alternate notation Reported 22954281 0 0.00 334 16021 CT : - + Mitochondrial myopathy Reported 27536729 0 0.00 301 16023 G A - + Migraine +pigmentary retinopathy +deafness +leukariosis Reported 23696415 0 0.00 302 16032 T TTCTCTGTTCTTTCAT - + Dilated cardiomyopathy (15 bp dup) Reported 22954281 1 0.00 304 16033 G TCTCTGTTCTTTCATG - + Dilated cardiomyopathy (15 bp dup), alternate notation Reported 22954281 0 0.00 302 16081 A G noncoding - + Cyclic Vomiting Syndrome Reported 15368478 1 0.00 301 16093 T C noncoding - + Cyclic Vomiting Syndrome Reported 15368478 2410 5.66 300 16129 G A noncoding - + Cyclic Vomiting Syndrome with Migraine Reported 15368478 5373 12.61 299 16176 C T noncoding - + Cyclic Vomiting Syndrome with Migraine Reported 15368478 274 0.64 296 16183 A C noncoding . . Melanoma patients Reported 22174736 5686 13.34 76 16189 T C noncoding + - Diabetes / Cardiomyopathy /cancer risk / mtDNA copy nbr / Metabolic Syndrome / Melanoma patients Reported 9820026, 12045211, 12421439, 11418155, 9498630, 15880407, 12872259, 16271646, 15972579, 16892079, 19397801, 23702607, 16773565, 16142453, 18679013, 21146361, 12147150, 17066297, 17390150, 22281886, 22174736, 11472454, 16784794, 21298061, 17535991, 16331560, 15965046, 11798951, 17032725, 16414144, 18251004, 29182103 10744 25.21 297 16192 C T noncoding . . Melanoma patients Reported 22174736 1753 4.11 298 16270 C T noncoding . . Melanoma patients Reported 22174736 2007 4.71 209 16300 A G noncoding + - BD-associated Reported 19290059, 20837494 199 0.47 340 16318 A C noncoding . . Non-alcoholic steatohepatitis - potential for association Reported 86 0.20 317 16390 G A noncoding + - POAG - potential for association Reported 24694284, 27217714, 24102601 2582 6.06 257 16519 T T noncoding + - Cyclic Vomiting Syndrome with Migraine /metastasis Reported 19368653, 25332060, 19220304, 22174736 0 0.00