Supplementary Table S8: Detailed information of top diseases associated with non-synonymous Korean only SNVs (SNV-1/ns and SNV-35/ns)
Korean only SNVs Order Disease #Gene Statistics
(C: the number of reference genes in the category; O: the number of genes in the gene set and also in the category; E: the expected number in the category; R: ratio of enrichment; rawP: p value from hypergeometric test; adjP: p value adjusted by the multiple test adjustment; )		 EntrezGene
SNV-1/ns 1 Adhesion 241 C=647;O=241;E=77.61;R=3.11;rawP=2.28e-62;adjP=3.44e-59 23145, 23092, 64866, 4059, 5724, 3339, 6363, 147409, 2199, 8174, 10154, 8516, 4240, 25930, 4917, 23166, 56141, 83872, 4072, 1013, 3909, 4585, 6786, 4790, 3690, 3373, 1364, 10752, 83660, 7074, 91653, 1825, 3910, 3683, 3695, 56147, 1630, 10026, 6401, 5797, 7145, 6405, 2316, 50937, 84951, 5100, 3682, 4978, 8754, 2185, 7412, 1500, 6093, 101, 5909, 56114, 4026, 56144, 30817, 8639, 3728, 2335, 1495, 3655, 2119, 7082, 10174, 26047, 3693, 2192, 7057, 5010, 56122, 64759, 152330, 4313, 3913, 9423, 3680, 4684, 58494, 57554, 5029, 8633, 57575, 3915, 56121, 8876, 7436, 2274, 340205, 5782, 5649, 5339, 221935, 3611, 7045, 8470, 257194, 56106, 10024, 10631, 1462, 2195, 3679, 2886, 976, 7450, 51206, 5317, 1048, 947, 1087, 79987, 3381, 1793, 9378, 3371, 57556, 2317, 23136, 4856, 56102, 6464, 2811, 11117, 5328, 999, 26167, 4323, 1001, 22801, 1282, 2050, 4233, 56110, 1830, 56100, 3987, 51466, 56126, 207, 4289, 3964, 6404, 394, 6677, 4099, 56253, 1832, 214, 1605, 56099, 3921, 22795, 10863, 4301, 9369, 56138, 55612, 558, 9635, 5754, 9032, 3673, 3912, 3681, 482, 23114, 23129, 56098, 3911, 7804, 1501, 768, 4318, 55576, 54510, 8502, 9289, 5098, 8874, 201633, 5493, 1088, 9723, 2047, 284217, 56123, 4897, 6714, 140885, 3959, 3914, 824, 57555, 2048, 3696, 5787, 4584, 56143, 3038, 56104, 9922, 8751, 3672, 960, 1464, 56130, 4811, 5829, 53942, 6868, 7143, 339390, 4815, 56140, 30835, 9265, 8857, 1294, 22871, 8038, 9564, 23371, 27255, 8506, 64403, 56129, 152404, 56108, 6840, 7216, 57453, 3691, 51294, 22829, 10009, 50649, 945, 56131
2 Disease Susceptibility 238 C=825;O=238;E=98.96;R=2.41;rawP=1.60e-39;adjP=1.21e-36 8549, 6581, 6261, 118, 3798, 3949, 283450, 10144, 580, 4552, 4683, 8930, 1621, 91752, 775, 463, 89866, 3119, 63892, 3690, 1789, 1268, 231, 3566, 11262, 7099, 390598, 4968, 1545, 718, 2067, 2954, 10318, 6559, 3804, 6401, 6531, 120892, 55054, 1553, 51196, 8797, 60528, 4041, 25902, 2161, 3594, 3811, 672, 3077, 8927, 5167, 675, 4314, 11278, 25970, 64127, 2073, 5054, 3559, 11200, 337, 886, 9863, 6323, 6331, 5270, 5789, 2119, 132612, 2565, 57705, 26047, 2492, 4485, 150962, 51284, 5644, 152330, 4018, 7507, 30009, 6653, 64478, 2262, 154197, 59348, 8542, 4522, 2567, 131, 3482, 1565, 122402, 5649, 5893, 2100, 7813, 2175, 6098, 339145, 2638, 55289, 54848, 4261, 3663, 2214, 2918, 7515, 257194, 3554, 847, 160851, 7097, 1594, 577, 2166, 2212, 7038, 4053, 1118, 8863, 2099, 64135, 4843, 2557, 5078, 129787, 5999, 3351, 344148, 3455, 126204, 5071, 2176, 83990, 288, 5362, 5395, 6648, 8200, 9378, 23046, 4353, 27445, 1585, 387129, 23569, 4193, 2811, 5462, 55277, 117156, 5144, 149233, 843, 285195, 6556, 115352, 1277, 341, 2162, 9446, 2215, 441108, 7297, 6392, 23400, 5743, 3416, 7185, 1544, 23245, 5740, 23274, 7466, 3673, 12, 112744, 4128, 140766, 4023, 5981, 9575, 56999, 2312, 3805, 54658, 169792, 23017, 1636, 7508, 3565, 1141, 875, 4650, 161582, 338, 2153, 4619, 3603, 1395, 6817, 6324, 54578, 26762, 219771, 2205, 2956, 4214, 2213, 6470, 22853, 53942, 7128, 51750, 140733, 79258, 30835, 3784, 2913, 3560, 3953, 2572, 3106, 10392, 185, 183, 9844, 84868, 3569, 10111, 3359, 5243, 472, 3394, 7096, 11216
3 Genetic Predisposition to Disease 231 C=808;O=231;E=96.92;R=2.38;rawP=1.04e-37;adjP=5.23e-35 8549, 6581, 6261, 118, 3798, 3949, 283450, 10144, 580, 4552, 4683, 8930, 1621, 91752, 775, 463, 89866, 3119, 63892, 3690, 1789, 1268, 231, 3566, 11262, 7099, 390598, 4968, 1545, 3562, 2067, 2954, 10318, 6559, 3804, 6401, 6531, 120892, 55054, 51196, 8797, 60528, 4041, 2161, 3594, 3811, 672, 3077, 8927, 5167, 675, 4314, 11278, 25970, 64127, 2073, 5054, 3559, 11200, 337, 886, 9863, 6323, 6331, 5270, 9620, 5789, 2119, 132612, 2565, 57705, 26047, 2492, 11005, 4485, 150962, 51284, 5644, 4018, 7507, 30009, 6653, 64478, 2262, 154197, 59348, 8542, 4522, 2567, 131, 3482, 1565, 122402, 5649, 5893, 2100, 7813, 2175, 6098, 2638, 55289, 54848, 4261, 3663, 2214, 2918, 7515, 257194, 3554, 847, 160851, 7097, 1594, 577, 2166, 2212, 4053, 8863, 2099, 64135, 4843, 2557, 5078, 129787, 5999, 3351, 344148, 3455, 126204, 5071, 83990, 288, 5362, 5395, 6648, 8200, 9378, 4353, 27445, 1585, 387129, 23569, 4193, 2811, 5462, 55277, 283463, 117156, 5144, 149233, 843, 285195, 6556, 115352, 1277, 341, 2162, 9446, 2215, 7297, 23400, 5743, 3416, 7185, 23245, 1544, 5740, 23274, 7466, 3673, 12, 112744, 4128, 140766, 4023, 5981, 9575, 56999, 2312, 3805, 23040, 54658, 169792, 23017, 1636, 7508, 27328, 3565, 1141, 875, 4650, 161582, 338, 2153, 4619, 3603, 1395, 6817, 6324, 54578, 26762, 5742, 219771, 2205, 2956, 2213, 6470, 22853, 7128, 140733, 79258, 126205, 30835, 3784, 2913, 3560, 3953, 2572, 3106, 10392, 185, 183, 84868, 3569, 10111, 3359, 472, 3394, 7096, 55135, 11216
4 Myocardial Infarction 90 C=242;O=90;E=29.03;R=3.10;rawP=4.95e-24;adjP=1.87e-21 118, 3949, 55757, 10144, 22982, 1013, 3909, 9910, 3690, 7099, 57222, 259296, 6401, 6405, 2161, 199692, 3340, 3077, 84084, 5167, 4314, 51086, 7412, 5054, 144406, 6331, 8216, 9620, 5069, 7633, 7057, 10060, 4018, 4313, 54872, 10867, 154197, 50487, 221458, 1558, 84775, 79092, 120071, 221935, 6098, 327657, 79080, 7450, 51206, 947, 22980, 4882, 22879, 79400, 4353, 5687, 2811, 23144, 151647, 2162, 84465, 57731, 1544, 23274, 5740, 3673, 51332, 4023, 7804, 7056, 4318, 1636, 8315, 151112, 6305, 338, 2153, 1471, 30845, 5742, 29948, 23241, 375056, 55753, 4648, 5834, 185, 183, 3569, 57537
5 Urologic Diseases 98 C=285;O=98;E=34.19;R=2.87;rawP=4.48e-23;adjP=1.13e-20 56606, 8029, 7249, 118, 57545, 27130, 525, 22925, 1188, 84662, 50617, 231, 3566, 6123, 4968, 7369, 9788, 55243, 718, 1285, 6559, 80790, 51259, 51196, 5950, 5167, 6557, 2073, 204474, 7840, 5190, 5192, 200958, 65125, 80144, 4313, 3913, 8542, 1286, 221935, 27031, 3611, 7515, 339044, 7348, 168507, 10631, 3091, 6271, 2212, 6569, 4311, 5310, 2475, 7809, 4256, 3758, 4627, 1585, 23322, 1187, 4179, 65266, 6337, 92305, 10343, 6519, 4233, 353511, 189, 65010, 284004, 2215, 57619, 558, 7466, 4306, 768, 6092, 1636, 7508, 4036, 8100, 655, 1471, 6521, 26762, 5314, 26276, 1497, 185, 183, 9844, 7849, 3569, 4010, 340024, 9581
6 Subarachnoid Hemorrhage 54 C=104;O=54;E=12.47;R=4.33;rawP=4.30e-23;adjP=1.13e-20 55757, 10144, 22982, 1013, 9910, 3690, 57222, 23113, 3340, 84084, 5049, 5054, 8216, 9620, 7633, 54872, 10867, 154197, 65268, 50487, 84775, 79092, 120071, 221935, 79080, 1305, 5799, 4660, 22980, 22879, 3371, 4931, 23144, 151647, 2162, 84465, 57731, 12, 51332, 4318, 55191, 1636, 57695, 151112, 6305, 9922, 29948, 23241, 55753, 4648, 8425, 3569, 51272, 57537
7 Metabolic Diseases 162 C=612;O=162;E=73.41;R=2.21;rawP=6.55e-23;adjP=1.41e-20 56606, 2678, 8549, 79944, 6942, 32, 2548, 4598, 133522, 1376, 5506, 89781, 3949, 2177, 56922, 140803, 844, 23175, 525, 4552, 4683, 6821, 3119, 63892, 50617, 231, 779, 7369, 2731, 6559, 4948, 6401, 6609, 5257, 26503, 3988, 275, 3077, 2641, 5950, 2670, 5167, 2934, 3141, 2203, 540, 25970, 2073, 5054, 337, 7840, 3172, 23650, 8639, 9056, 5190, 2592, 132612, 79602, 6319, 4853, 5192, 51151, 9401, 4018, 91442, 7507, 5346, 9415, 26580, 84343, 594, 29881, 344, 1203, 2175, 257194, 3423, 1594, 51422, 3643, 64122, 8443, 6569, 5799, 7350, 1118, 37, 2055, 1717, 64135, 3073, 5078, 129787, 2176, 145264, 256471, 4256, 5395, 336, 2132, 65266, 6337, 55277, 6519, 1607, 5176, 189, 1356, 5538, 341, 4891, 2189, 4864, 6927, 3938, 3416, 23274, 7466, 5798, 4023, 949, 56999, 1716, 229, 4306, 169792, 54658, 4719, 1636, 7508, 3034, 875, 4650, 4976, 338, 7037, 1471, 2588, 6521, 5106, 2956, 83650, 3784, 5498, 3953, 2572, 5091, 1497, 185, 183, 5122, 38, 472, 2720, 5660, 340024, 34, 9882, 411, 1593, 2653
8 Kidney Diseases 95 C=274;O=95;E=32.87;R=2.89;rawP=1.04e-22;adjP=1.74e-20 56606, 8029, 7249, 118, 57545, 140803, 27130, 525, 22925, 1188, 84662, 50617, 231, 57600, 6123, 7369, 55243, 718, 1285, 6559, 80790, 51259, 51196, 5950, 5167, 6557, 204474, 7840, 5190, 5192, 200958, 65125, 84514, 80144, 3913, 10877, 8542, 1286, 221935, 27031, 3611, 339044, 950, 168507, 3091, 6271, 2212, 6569, 3073, 4311, 114780, 5310, 7809, 4256, 3758, 4627, 1585, 23322, 1187, 4179, 65266, 6337, 64132, 10343, 6519, 353511, 189, 91147, 65010, 284004, 2215, 57619, 7466, 4306, 768, 1636, 4036, 150368, 8100, 655, 1471, 6521, 26762, 27077, 5314, 144717, 26276, 1497, 185, 183, 9844, 7849, 3569, 340024, 9581
9 Skin and Connective Tissue Diseases 137 C=481;O=137;E=57.70;R=2.37;rawP=1.04e-22;adjP=1.74e-20 5753, 147409, 89781, 580, 3868, 4683, 348938, 667, 3866, 3909, 3119, 368, 919, 3898, 3880, 3566, 1545, 1825, 10318, 1285, 4948, 8838, 1019, 4288, 7022, 672, 3858, 675, 4314, 3848, 26018, 2073, 3559, 11200, 118856, 3655, 389, 9429, 11005, 5304, 51151, 51284, 9401, 64175, 471, 4313, 7507, 59348, 5915, 26580, 84343, 1286, 256076, 10850, 5339, 2100, 4261, 5873, 1956, 3663, 6283, 2214, 7515, 132884, 3423, 847, 6278, 2886, 2212, 5317, 2099, 64135, 216, 152110, 83990, 8493, 6648, 7157, 51561, 23569, 26154, 999, 1289, 4323, 1001, 103, 1830, 149233, 207, 115352, 1277, 5727, 214, 1832, 2215, 5743, 55612, 4486, 7185, 112744, 23581, 2312, 4318, 673, 10230, 7508, 3565, 875, 2113, 3914, 6817, 2588, 6737, 9687, 2065, 960, 6774, 4214, 2213, 10516, 7128, 85320, 1294, 5498, 91074, 3106, 2200, 6926, 472, 3849, 4010, 2720, 10481, 3691, 3605, 411, 11285
10 Nervous System Diseases 176 C=694;O=176;E=83.24;R=2.11;rawP=1.48e-22;adjP=2.23e-20 79944, 2548, 7249, 6261, 546, 4763, 347731, 57545, 3798, 1376, 8912, 81846, 1261, 11315, 117531, 525, 4552, 1621, 114907, 1785, 779, 390598, 4703, 157680, 2731, 54332, 9420, 8293, 6531, 6609, 120892, 4035, 114327, 6445, 26503, 3908, 25953, 7415, 6336, 3785, 2670, 4593, 540, 163175, 5274, 1191, 10585, 23650, 6323, 10083, 5190, 6334, 2592, 2, 65217, 10743, 26047, 4671, 2688, 5192, 7007, 1123, 9980, 100462981, 3000, 80208, 6653, 26580, 84107, 594, 2660, 64072, 5376, 59341, 3092, 2483, 7813, 1203, 487, 64221, 57716, 2904, 3423, 7248, 950, 1859, 3064, 64374, 8291, 7442, 1118, 8863, 2055, 3073, 9627, 4311, 5071, 256471, 343641, 7809, 4647, 81614, 23230, 23742, 351, 23322, 25836, 55277, 1180, 84059, 1282, 7267, 4854, 5144, 1292, 124590, 4155, 1356, 5538, 7402, 9446, 51168, 121227, 1605, 54714, 4864, 23400, 3416, 23274, 7466, 12, 55157, 1762, 5981, 57190, 1756, 7399, 1636, 1141, 875, 57142, 8518, 4976, 55624, 161582, 7018, 146227, 11235, 374286, 26278, 6324, 1471, 2332, 8292, 25894, 167691, 4815, 1837, 259266, 773, 57096, 8038, 9513, 9001, 8890, 2861, 64324, 5091, 472, 2720, 79628, 5660, 340024, 55605, 6571, 23095
SNV-35/ns 1 Nelson syndrome 3 C=673;O=3;E=0.45;R=6.63;rawP=0.0102;adjP=0.0102 375248, 4584, 653781