| A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z | AA | AB | AC | AD | AE | AF | AG | AH | AI | AJ | AK | AL | AM | AN | AO | AP | AQ | AR | AS | AT | AU | AV | AW | AX | AY | AZ | BA | BB | BC | BD | BE | BF | BG | BH | BI | BJ | BK | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | Lead variant | CHR | POS | REF | ALT | Most severe consequence | Gene | INFO | AF | N | N_Hom_REF | N_HET | N_Hom_ALT | Hom_Freq | Reference panel | Phenotype | Phenotype Panel | Number of cases | AF in cases | AF in controls | REGENIE REC BETA | REGENIE REC SE | REGENIE REC CHISQ | REGENIE REC OR | REGENIE REC P | REGENIE ADD BETA | REGENIE ADD SE | REGENIE ADD CHISQ | REGENIE ADD OR | REGENIE ADD P | delta log10p | FinnGen Phenotype | FinnGen REC OR | FinnGen REC P | Proxy variant | Proxy LDR2 | FinnGen Proxy REC OR | FinnGen Proxy REC P | replication | GERA Phenotype | GERA REC OR | GERA REC P | REGENIE ADDNOHOM N | REGENIE ADDNOHOM N Cases | REGENIE ADDNOHOM BETA | REGENIE ADDNOHOM SE | REGENIE ADDNOHOM CHISQ | REGENIE ADDNOHOM OR | REGENIE ADDNOHOM P | R REC OR | R REC P | R ADD OR | R ADD P | R ADDNOHOM OR | R ADDNOHOM P | R DD P | R unrelated REC OR | R unrelated REC P | R unrelated ADD OR | R unrelated ADD P | R unrelated ADDNOHOM OR | R unrelated ADDNOHOM P | R unrelated DD P |
2 | chr1:2620059:C:A | 1 | 2620059 | C | A | intron variant | MMEL1 | 0.812512 | 0.0007037297678 | 42027 | 41890 | 53 | 3 | 7.15E-05 | TOPMED | M70[Soft tissue disorders related to use, overuse and pressure] | ICD10 | 821 | 0.00647456 | 0.0010738 | 8.06198 | 2.00247 | 30.8869 | 3171.563618 | 2.74E-08 | 2.34374 | 0.369407 | 27.5182 | 10.42013508 | 1.56E-07 | 0.7551 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42024 | 818 | 1.63537 | 0.525619 | 6.90261 | 5.131356248 | 0.008606964268 | 28619790.39 | 0.9266165958 | 8.76463829 | 2.52E-10 | 4.328150269 | 0.005925774368 | 0.9390286959 | 32841279.62 | 0.926225243 | 9.948073519 | 2.68E-09 | 3.37575331 | 0.10079232 | 0.93649212 |
3 | chr1:11796321:G:A | 1 | 11796321 | G | A | missense variant | MTHFR | 1.01917 | 0.151955393 | 44186 | 33156 | 10010 | 936 | 0.02122352728 | WES5K | Folate_deficiency_with_and_without_anaemia | CUSTOM | 2492 | 0.159107 | 0.133774 | 0.729859 | 0.115053 | 34.226 | 2.074788042 | 4.91E-09 | 0.226701 | 0.0407721 | 29.491 | 1.25445473 | 5.62E-08 | 1.05875 | D3_ANAEMIA_FOLATEDEF | 2.101036932 | 0.0160994 | NA | NA | NA | NA | yes | NA | NA | NA | 43250 | 2400 | 0.137604 | 0.0497695 | 7.49289 | 1.147521042 | 0.006194268121 | 1.974763705 | 1.86E-09 | 1.235492207 | 1.38E-07 | 1.132469291 | 0.01094917767 | 0.001006949313 | 1.851521233 | 1.59E-05 | 1.186312895 | 0.0008813077486 | 1.081140979 | 0.21544144 | 0.00756084 |
4 | chr1:11796321:G:A | 1 | 11796321 | G | A | missense variant | MTHFR | 0.995203 | 0.1526179368 | 44186 | 32692 | 9938 | 919 | 0.02110266596 | TOPMED | Folate_deficiency_with_and_without_anaemia | CUSTOM | 2492 | 0.161396 | 0.136062 | 0.727383 | 0.115035 | 34.0214 | 2.069657221 | 5.45E-09 | 0.228779 | 0.0409566 | 29.7649 | 1.257064197 | 4.88E-08 | 0.95171 | D3_ANAEMIA_FOLATEDEF | 2.101036932 | 0.0160994 | NA | NA | NA | NA | yes | NA | NA | NA | 43267 | 2402 | 0.144702 | 0.049779 | 8.2748 | 1.155695122 | 0.004019943971 | 1.961173638 | 3.93E-09 | 1.234283105 | 1.86E-07 | 1.134089259 | 0.01033875852 | 0.001383393331 | 1.8773579 | 1.04E-05 | 1.193142668 | 0.0006082677011 | 1.085607007 | 0.1934183 | 0.00688657 |
5 | chr1:12265958:C:T | 1 | 12265958 | C | T | intron variant | VPS13D | 0.584501 | 0.002766028702 | 42027 | 40199 | 217 | 3 | 7.42E-05 | TOPMED | M53[Other dorsopathies, not elsewhere classified] | ICD10 | 912 | 0.0179159 | 0.0104454 | 5.33278 | 0.882968 | 32.3443 | 207.0126702 | 1.29E-08 | 1.09764 | 0.225507 | 18.7451 | 2.997084552 | 1.49E-05 | 3.06332 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42024 | 910 | 0.901231 | 0.244027 | 11.292 | 2.462632747 | 0.000778412856 | 257.963492 | 2.10E-05 | 3.036063647 | 0.0001031233246 | 2.132036238 | 0.02831609367 | 0.006058978418 | 79.30881756 | 0.002311876476 | 2.898233303 | 0.003284216613 | 2.241094845 | 0.0566373 | 0.09672457 |
6 | chr1:31215264:T:C | 1 | 31215264 | T | C | intron variant | NKAIN1 | 0.869933 | 0.8846632063 | 42027 | 2922 | 13831 | 15497 | 0.4805271318 | TOPMED | L21[Seborrhoeic dermatitis] | ICD10 | 3102 | 0.741793 | 0.702923 | 0.22361 | 0.0385563 | 33.7709 | 1.250583197 | 6.20E-09 | 0.187722 | 0.0331846 | 32.6128 | 1.206498062 | 1.12E-08 | 0.25867 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 26530 | 1872 | 0.237731 | 0.0458449 | 26.9538 | 1.268367956 | 2.08E-07 | 1.224344967 | 4.06E-06 | 1.188335945 | 1.00E-06 | 1.164678843 | 0.08815200469 | 0.8429216714 | 1.126316873 | 0.03495273134 | 1.100429983 | 0.0318406942 | 1.065182269 | 0.56041595 | 0.72950619 |
7 | chr1:31215264:T:C | 1 | 31215264 | T | C | intron variant | NKAIN1 | 0.870905 | 0.8840302399 | 44186 | 3091 | 14541 | 16292 | 0.4802499705 | TOPMED | Seborrheic_dermatitis | CUSTOM | 3086 | 0.74282 | 0.702599 | 0.228818 | 0.0385842 | 35.3133 | 1.257113224 | 2.81E-09 | 0.194139 | 0.0332249 | 34.8167 | 1.214265054 | 3.62E-09 | 0.11075 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 27894 | 1860 | 0.248293 | 0.0458811 | 29.346 | 1.281835455 | 6.05E-08 | 1.232707462 | 1.97E-06 | 1.196764889 | 3.82E-07 | 1.18063653 | 0.06511590371 | 0.9020465752 | 1.136098956 | 0.02400366152 | 1.109272681 | 0.02042945254 | 1.07797945 | 0.4916606 | 0.75012389 |
8 | chr1:38245969:G:A | 1 | 38245969 | G | A | intergenic variant | . | 1.00915 | 0.01775325169 | 44186 | 42630 | 1487 | 27 | 0.0006116346502 | WES5K | Peripheral_arterial_disease | CUSTOM | 477 | 0.0262012 | 0.0175615 | 4.20858 | 0.596461 | 34.2091 | 67.2609614 | 4.95E-09 | 0.472012 | 0.257909 | 3.34944 | 1.603216622 | 0.06722797037 | 7.13297 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 44159 | 471 | -0.299482 | 0.26843 | 1.24474 | 0.7412020639 | 0.2645604984 | 55.32065642 | 1.03E-11 | 1.463950287 | 0.06681927851 | 0.7701658838 | 0.3637144951 | 3.04E-08 | 21.78041831 | 8.52E-05 | 1.211170117 | 0.500483075 | 0.6705319455 | 0.30571532 | 0.0004341 |
9 | chr1:38245969:G:A | 1 | 38245969 | G | A | intergenic variant | . | 1.00157 | 0.01785364392 | 44186 | 42606 | 1495 | 27 | 0.0006118564177 | TOPMED | Peripheral_arterial_disease | CUSTOM | 477 | 0.0268301 | 0.0177617 | 4.20858 | 0.596461 | 34.2091 | 67.2609614 | 4.95E-09 | 0.496289 | 0.257208 | 3.72307 | 1.642614205 | 0.0536660956 | 7.03512 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 44159 | 471 | -0.268549 | 0.267642 | 1.00679 | 0.764487962 | 0.3156726819 | 55.52787396 | 1.01E-11 | 1.460557337 | 0.0685585478 | 0.7680843943 | 0.3588140797 | 2.88E-08 | 21.8736672 | 8.57E-05 | 1.208043477 | 0.5064217534 | 0.668341441 | 0.30185723 | 0.00042426 |
10 | chr1:45616613:C:T | 1 | 45616613 | C | T | splice polypyrimidine tract variant | NASP | 0.862222 | 0.001793999381 | 24387 | 24204 | 77 | 5 | 0.0002058799308 | WES5K | GNH0249_NormalUncomplicatedTermDelivery | CUSTOM | 11666 | 0.00317252 | 0.00301117 | 9.16569 | 1.93131 | 31.1574 | 9563.317838 | 2.38E-08 | 0.148169 | 0.195455 | 0.574676 | 1.159708871 | 0.4484066039 | 7.275222 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 24382 | 11656 | -0.103875 | 0.206944 | 0.251952 | 0.9013379576 | 0.6157040354 | 74149898.1 | 0.8241494054 | 1.404739124 | 0.1413355632 | 1.006510663 | 0.9787262799 | 0.8242783947 | 52734162.81 | 0.8903201607 | 1.697806353 | 0.07932501037 | 1.304905384 | 0.39344375 | 0.89344805 |
11 | chr1:48228922:G:A | 1 | 48228922 | G | A | missense variant | SLC5A9 | 1.016 | 0.05243156582 | 44186 | 39895 | 4123 | 146 | 0.003305859976 | WES5K | Hypertension | CUSTOM | 11822 | 0.0484835 | 0.0507068 | -1.42581 | 0.283547 | 30.5947 | 0.2403137302 | 3.18E-08 | -0.121942 | 0.0433886 | 7.97431 | 0.8851997086 | 0.004744604321 | 5.17382 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 44040 | 11802 | -0.0468491 | 0.045809 | 1.04593 | 0.9542313802 | 0.3064474416 | 0.2576605582 | 1.12E-06 | 0.9066209661 | 0.02184868827 | 0.9765703032 | 0.6011470003 | 6.82E-06 | 0.1402641564 | 6.86E-06 | 0.8790122907 | 0.01547411481 | 0.9579474042 | 0.44378853 | 2.80E-05 |
12 | chr1:48256392:G:GT | 1 | 48256392 | G | GT | intergenic variant | . | 0.995949 | 0.05228547943 | 44186 | 39777 | 4127 | 131 | 0.002974906325 | TOPMED | Hypertension | CUSTOM | 11822 | 0.0484473 | 0.0512711 | -1.51374 | 0.297894 | 31.7564 | 0.2200853177 | 1.75E-08 | -0.136126 | 0.0437152 | 9.79887 | 0.8727326612 | 0.001746183982 | 4.99961 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 44055 | 11806 | -0.0677842 | 0.0456286 | 2.2069 | 0.9344621087 | 0.1373943899 | 0.2244726606 | 1.43E-06 | 0.8948204344 | 0.009946583387 | 0.9578570878 | 0.3424216698 | 1.12E-05 | 0.1681320806 | 6.51E-05 | 0.8910860604 | 0.03138161466 | 0.9559183861 | 0.42168313 | 0.00021681 |
13 | chr1:76418868:T:TA | 1 | 76418868 | T | TA | intron variant | ST6GALNAC3 | 0.898283 | 0.01345368055 | 42027 | 40441 | 1073 | 15 | 0.0003611933829 | TOPMED | E87[Other disorders of fluid, electrolyte and acid-base balance] | ICD10 | 1711 | 0.0187021 | 0.0159494 | 3.94517 | 0.545183 | 35.0117 | 51.68512384 | 3.28E-09 | 0.206031 | 0.156215 | 1.73947 | 1.228791296 | 0.1872056707 | 7.756799 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42012 | 1707 | 0.0401417 | 0.159387 | 0.0634286 | 1.040958268 | 0.8011567572 | 18.81419639 | 1.24E-05 | 1.045251883 | 0.7771361868 | 0.866101314 | 0.4025390392 | 1.88E-05 | 4.165592534 | 0.2220625582 | 1.024675109 | 0.906475558 | 0.9631293059 | 0.8631039 | 0.22825312 |
14 | chr1:93847011:TCGGGCGCGGCGG:* | 1 | 93847011 | TCGGGCGCGGCGG | * | intron variant | BCAR3 | 0.840658 | 0.3518744855 | 44186 | 12992 | 8247 | 2930 | 0.1212296744 | WES5K | Dermatitis_atopc_contact_other_unspecified | CUSTOM | 12961 | 0.370679 | 0.357953 | 0.168955 | 0.0297066 | 31.9285 | 1.184066855 | 1.60E-08 | 0.0444349 | 0.0171795 | 6.68004 | 1.045436917 | 0.009749896377 | 5.785 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 41256 | 11945 | -0.02242 | 0.020638 | 1.18014 | 0.9778294604 | 0.2773269019 | 1.293171905 | 1.33E-09 | 1.069129946 | 0.001028904254 | 0.9375453385 | 0.04095363272 | 6.34E-08 | 1.286276654 | 3.75E-06 | 1.047399221 | 0.0771392031 | 0.8978742938 | 0.00771692 | 7.18E-07 |
15 | chr1:103412173:G:GA | 1 | 103412173 | G | GA | upstream gene variant | . | 0.631616 | 0.00249292059 | 42027 | 41214 | 200 | 3 | 7.24E-05 | TOPMED | H54[Visual impairment including blindness (binocular or monocular)] | ICD10 | 340 | 0.0196695 | 0.00683326 | 5.80778 | 0.934613 | 32.2464 | 332.8793127 | 1.36E-08 | 1.62675 | 0.308339 | 18.8069 | 5.087314051 | 1.45E-05 | 3.02737 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42024 | 339 | 1.45113 | 0.337546 | 13.0467 | 4.267934557 | 0.0003038155512 | 160.2516731 | 7.57E-05 | 2.518823051 | 0.06682198871 | 1.273038925 | 0.7360879373 | 0.01674599294 | 300683529.4 | 0.9520650707 | 4.449765823 | 0.003884985787 | 2.162603058 | 0.28544551 | 0.9558467 |
16 | chr1:115290827:A:T | 1 | 115290827 | A | T | intron variant | NGF | 0.988254 | 0.002591508927 | 42027 | 41759 | 211 | 3 | 7.15E-05 | TOPMED | I42[Cardiomyopathy] | ICD10 | 177 | 0.0141133 | 0.00286237 | 7.69141 | 0.942925 | 31.521 | 2189.459525 | 1.97E-08 | 1.55867 | 0.486608 | 7.28514 | 4.75249622 | 0.006952804212 | 5.54704 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42024 | 175 | -0.366502 | 0.897239 | 0.166854 | 0.6931547502 | 0.6829234097 | 7485.170677 | 1.60E-11 | 5.947309017 | 0.0001165210448 | 1.142492853 | 0.8949903073 | 0.0003244226147 | 7508.067235 | 7.66E-11 | 7.3068511 | 0.0001384204447 | 2.37E-06 | 0.97969056 | 0.9727055 |
17 | chr1:192575098:A:G | 1 | 192575098 | A | G | intron variant | . | 0.873137 | 0.00605167478 | 42027 | 41143 | 493 | 4 | 9.61E-05 | TOPMED | M23[Internal derangement of knee] | ICD10 | 688 | 0.0104678 | 0.00834268 | 6.05096 | 0.883048 | 30.6469 | 424.520374 | 3.10E-08 | 0.451005 | 0.3431 | 1.72791 | 1.569889132 | 0.1886778853 | 6.785041 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42023 | 686 | -0.0106539 | 0.344403 | 0.000956941 | 0.9894026518 | 0.9753217293 | 330.5092107 | 1.15E-06 | 1.296880523 | 0.4443632002 | 0.7161358307 | 0.4615906527 | 1.54E-05 | 297.9349956 | 0.003736209863 | 0.7664872543 | 0.648543966 | 0.2540039497 | 0.17258174 | 0.00269807 |
18 | chr1:194023706:A:G | 1 | 194023706 | A | G | intron variant | . | 0.90203 | 0.002598211185 | 42027 | 41651 | 209 | 4 | 9.55E-05 | TOPMED | F11[Mental and behavioural disorders due to use of opioids] | ICD10 | 171 | 0.0134502 | 0.00354358 | 7.84174 | 1.14434 | 30.3343 | 2544.628638 | 3.64E-08 | 1.45197 | 0.496573 | 6.11936 | 4.271521129 | 0.01337088027 | 5.56549 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42023 | 169 | -0.683059 | 0.905706 | 0.568776 | 0.5050696189 | 0.4507461231 | 2963.58665 | 3.30E-13 | 3.996031008 | 0.007401188812 | 2.10E-06 | 0.9742117439 | 0.9663661485 | 840.1162869 | 1.13E-06 | 4.36115172 | 0.03872055149 | 3.18E-06 | 0.97983486 | 0.97450369 |
19 | chr1:216911690:AG:A | 1 | 216911690 | AG | A | intron variant | ESRRG | 0.816954 | 0.005341202868 | 42027 | 40783 | 414 | 12 | 0.0002911985246 | TOPMED | H60[Otitis externa] | ICD10 | 477 | 0.018087 | 0.00966994 | 3.9937 | 0.508147 | 35.5567 | 54.25526292 | 2.48E-09 | 0.750153 | 0.26171 | 6.62551 | 2.117323942 | 0.01005286846 | 6.6083 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42015 | 474 | 0.273086 | 0.379004 | 0.519171 | 1.314013245 | 0.4711953544 | 41.47178813 | 7.06E-08 | 1.567059714 | 0.2001710304 | 0.4065559801 | 0.2058279762 | 0.0004741113464 | 67.70636437 | 4.33E-06 | 1.497782557 | 0.414591403 | 2.49E-06 | 0.9568878 | 0.94985682 |
20 | chr1:223842227:G:A | 1 | 223842227 | G | A | intron variant | TP53BP2 | 0.959571 | 0.001544613952 | 23710 | 23594 | 65 | 4 | 0.0001690402738 | TOPMED | O32[Maternal care for known or suspected malpresentation of fetus] | ICD10 | 2465 | 0.0033838 | 0.00193024 | 6.91503 | 1.94997 | 31.8601 | 1007.301246 | 1.66E-08 | 1.29766 | 0.287145 | 16.1954 | 3.660720551 | 5.71E-05 | 3.5376 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 23706 | 2461 | 0.638866 | 0.477103 | 1.79306 | 1.894331489 | 0.1805535368 | 25635879.23 | 0.9068039728 | 3.651620894 | 1.10E-05 | 1.739258584 | 0.1839665411 | 0.9128015418 | 5444603.651 | 0.9334820499 | 4.330736478 | 8.06E-06 | 2.683149504 | 0.02368808 | 0.94176288 |
21 | chr1:239913815:A:T | 1 | 239913815 | A | T | 3 prime utr variant | CHRM3 | 0.812269 | 0.00419127683 | 42027 | 41222 | 337 | 5 | 0.0001202964104 | TOPMED | M70[Soft tissue disorders related to use, overuse and pressure] | ICD10 | 821 | 0.0121108 | 0.00682086 | 4.89518 | 0.861463 | 30.48 | 133.6440604 | 3.37E-08 | 0.547022 | 0.25241 | 4.13304 | 1.728099068 | 0.04205329212 | 6.09576 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42022 | 818 | 0.148451 | 0.326166 | 0.207151 | 1.160035955 | 0.6490094194 | 84.3980188 | 5.81E-06 | 1.629696079 | 0.09339857728 | 0.8354119077 | 0.6647412598 | 0.0001824447182 | 77.01749239 | 0.0005357412737 | 1.580406832 | 0.2270543787 | 0.6998924309 | 0.5419389 | 0.00316723 |
22 | chr2:621954:T:C | 2 | 621954 | T | C | intergenic variant | . | 0.953276 | 0.9463728549 | 44186 | 1925 | 13524 | 27209 | 0.6378404989 | TOPMED | Obesity | CUSTOM | 7395 | 0.802328 | 0.78533 | 0.172998 | 0.0283081 | 37.6933 | 1.188863727 | 8.28E-10 | 0.145248 | 0.0242703 | 36.4112 | 1.156326304 | 1.60E-09 | 0.28556 | E4_OBESITY | 1.154723591 | 6.33E-22 | NA | NA | NA | NA | yes | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 1.182288819 | 3.12E-09 | 1.149140261 | 5.49E-09 | 1.06672647 | 0.3573714945 | 0.2158037321 | 1.16760377 | 1.18E-05 | 1.135833815 | 1.85E-05 | 1.047901129 | 0.5904055 | 0.31266397 |
23 | chr2:4431718:G:C | 2 | 4431718 | G | C | intergenic variant | . | 0.693981 | 0.1649837134 | 24387 | 10254 | 3728 | 162 | 0.01145361991 | TOPMED | GNH0247_GestationalHypertension | CUSTOM | 835 | 0.258066 | 0.233865 | 0.79843 | 0.13183 | 30.5445 | 2.222049571 | 3.26E-08 | 0.216925 | 0.0695253 | 9.45831 | 1.24225093 | 0.002101938476 | 4.80902 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 24225 | 826 | 0.199088 | 0.0720965 | 7.44357 | 1.220289347 | 0.00636634251 | 1.914890304 | 0.06429261777 | 0.9581480451 | 0.6764302188 | 0.8703200528 | 0.2207521135 | 0.02700014415 | 1.192096096 | 0.7344003063 | 0.9352538206 | 0.5937648 | 0.9061702356 | 0.47055378 | 0.54206762 |
24 | chr2:6740485:C:T | 2 | 6740485 | C | T | intron variant | LINC00487 | 0.82421 | 0.001784409768 | 42027 | 41676 | 141 | 4 | 9.56E-05 | TOPMED | L73[Other follicular disorders] | ICD10 | 443 | 0.0115124 | 0.00283247 | 5.82424 | 1.12182 | 31.3138 | 338.4038484 | 2.20E-08 | 1.4893 | 0.336004 | 14.0989 | 4.433990639 | 0.0001734442872 | 3.8977 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42023 | 440 | 0.82885 | 0.711764 | 1.35606 | 2.29068294 | 0.2442209971 | 275.6581869 | 1.72E-06 | 4.609984718 | 1.10E-05 | 1.372291137 | 0.6587518886 | 0.006891484729 | 288.674187 | 1.86E-06 | 6.639544478 | 1.03E-07 | 2.332785258 | 0.24172642 | 0.03239147 |
25 | chr2:36076367:C:T | 2 | 36076367 | C | T | intergenic variant | . | 0.923267 | 0.0123108904 | 44186 | 42762 | 1058 | 4 | 9.13E-05 | TOPMED | Chronic_viral_hepatitis | CUSTOM | 755 | 0.0219919 | 0.0142815 | 4.84676 | 0.733281 | 30.5129 | 127.3271807 | 3.32E-08 | 0.640969 | 0.187912 | 9.86287 | 1.89831946 | 0.001686475359 | 4.70629 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 44182 | 753 | 0.503616 | 0.200442 | 5.54777 | 1.654693839 | 0.01850418663 | 140.2811816 | 5.05E-06 | 1.692309589 | 0.00837488621 | 1.442158404 | 0.08987691771 | 0.0002812745464 | 239.0098263 | 3.52E-05 | 1.550618723 | 0.07993167895 | 1.183950526 | 0.55425557 | 0.00034225 |
26 | chr2:40115460:G:T | 2 | 40115460 | G | T | synonymous variant | SLC8A1 | 0.82931 | 0.003150266515 | 42027 | 41611 | 255 | 4 | 9.55E-05 | WES5K | H34[Retinal vascular occlusions] | ICD10 | 180 | 0.0113437 | 0.00432011 | 8.74099 | 1.24086 | 31.872 | 6254.084192 | 1.65E-08 | 1.32102 | 0.511435 | 4.78098 | 3.747241615 | 0.02877597185 | 6.2424 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42023 | 178 | -1.19432 | 0.932559 | 1.64016 | 0.3029098629 | 0.2003037131 | 6864.829034 | 2.04E-11 | 3.37074109 | 0.01943784009 | 2.14E-06 | 0.9714514858 | 0.9618262252 | 0.003783121629 | 0.9916888482 | 2.45E-06 | 0.9776994379 | 2.41E-06 | 0.97785445 | 0.99814767 |
27 | chr2:40115460:G:T | 2 | 40115460 | G | T | synonymous variant | SLC8A1 | 0.832757 | 0.003201731898 | 44186 | 43742 | 271 | 5 | 0.000113589895 | WES5K | Retinal_vascular_occlusions | CUSTOM | 180 | 0.0113437 | 0.00436648 | 8.63892 | 1.16103 | 32.377 | 5647.227524 | 1.27E-08 | 1.41035 | 0.507127 | 5.38094 | 4.097389239 | 0.02035776046 | 6.20498 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 44181 | 178 | -1.19654 | 0.974911 | 1.50634 | 0.3022381489 | 0.2196989595 | 3441.446357 | 1.89E-12 | 3.412548636 | 0.01809098071 | 2.32E-06 | 0.9706941216 | 0.9615342513 | 0.004009607748 | 0.9883484423 | 2.73E-06 | 0.9767876906 | 2.65E-06 | 0.97708247 | 0.99742105 |
28 | chr2:51166148:A:G | 2 | 51166148 | A | G | intron variant | . | 0.923582 | 0.08574274248 | 19799 | 15605 | 2633 | 147 | 0.007995648627 | TOPMED | Erectile_dysfunction | CUSTOM | 3706 | 0.0911906 | 0.0953994 | -1.41169 | 0.304598 | 29.9674 | 0.2437310295 | 4.39E-08 | -0.0336189 | 0.0509645 | 0.435143 | 0.9669399352 | 0.5094763163 | 7.064294 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 19652 | 3679 | 0.0596832 | 0.0549022 | 1.18175 | 1.06150021 | 0.2770007851 | 0.2164814043 | 0.000119649415 | 1.033185401 | 0.5394340218 | 1.157028209 | 0.01094436386 | 1.23E-05 | 0.1110834348 | 0.002409246155 | 1.032511133 | 0.6322191181 | 1.157898264 | 0.03956817 | 0.00079393 |
29 | chr2:66017686:G:A | 2 | 66017686 | G | A | intron variant | LINC02934 | 1.00847 | 0.00568297381 | 42027 | 41554 | 467 | 4 | 9.52E-05 | WES5K | L57[Skin changes due to chronic exposure to nonionizing radiation] | ICD10 | 464 | 0.0107909 | 0.00562211 | 6.53863 | 1.3265 | 29.9027 | 691.3387948 | 4.54E-08 | 0.78761 | 0.432165 | 3.32142 | 2.198136597 | 0.06838329136 | 6.17763 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42023 | 461 | -0.321669 | 0.43873 | 0.537557 | 0.7249381051 | 0.4634469197 | 1146.214703 | 3.97E-07 | 1.995854753 | 0.03254191616 | 0.7956712254 | 0.652025065 | 1.24E-05 | 628.9973372 | 0.002202357038 | 1.71042684 | 0.2396875009 | 1.024558327 | 0.96702115 | 0.00783368 |
30 | chr2:66017686:C:T | 2 | 66017686 | C | T | intron variant | LINC02934 | 0.99199 | 0.005647284039 | 42027 | 41554 | 464 | 4 | 9.52E-05 | TOPMED | L57[Skin changes due to chronic exposure to nonionizing radiation] | ICD10 | 464 | 0.0109447 | 0.00569195 | 6.53863 | 1.3265 | 29.9027 | 691.3387948 | 4.54E-08 | 0.808411 | 0.433558 | 3.47672 | 2.244338897 | 0.06223862651 | 6.13674 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42023 | 461 | -0.305877 | 0.440203 | 0.482821 | 0.7364772006 | 0.4871469637 | 1146.120503 | 3.96E-07 | 2.014017988 | 0.03033554218 | 0.8032152079 | 0.6655229699 | 1.30E-05 | 628.9548882 | 0.002201153229 | 1.710103335 | 0.239879611 | 1.024379719 | 0.96725904 | 0.00782876 |
31 | chr2:69340329:G:A | 2 | 69340329 | G | A | intron variant | GFPT1 | 0.625431 | 0.9916889646 | 42027 | 205 | 4554 | 22184 | 0.8233678506 | TOPMED | K63[Other diseases of intestine] | ICD10 | 1364 | 0.841492 | 0.865491 | -0.405827 | 0.0661063 | 35.2982 | 0.6664254491 | 2.83E-09 | -0.36951 | 0.0686018 | 27.0871 | 0.6910728734 | 1.94E-07 | 1.83727 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.6748390845 | 2.93E-06 | 0.6933825972 | 2.54E-06 | 0.8051974587 | 0.5343463644 | 0.612202378 | 0.6106555846 | 3.74E-06 | 0.6314421924 | 3.25E-06 | 0.7868400329 | 0.59631199 | 0.60277398 |
32 | chr2:79965309:A:G | 2 | 79965309 | A | G | intron variant | CTNNA2 | 0.806521 | 0.1916635791 | 42027 | 21817 | 8884 | 731 | 0.02325655383 | TOPMED | L73[Other follicular disorders] | ICD10 | 443 | 0.231173 | 0.204264 | 1.03824 | 0.163981 | 30.7668 | 2.824241972 | 2.91E-08 | 0.220579 | 0.0886928 | 5.92244 | 1.246798418 | 0.01494927049 | 5.71077 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 41296 | 415 | -0.0624369 | 0.106808 | 0.341724 | 0.9394723416 | 0.5588355169 | 3.908446819 | 1.73E-11 | 1.283042713 | 0.01156039071 | 0.8431139542 | 0.1935770035 | 5.61E-08 | 3.89661768 | 1.74E-07 | 1.350021388 | 0.01820218661 | 0.9029736827 | 0.54843612 | 9.12E-05 |
33 | chr2:82023510:T:G | 2 | 82023510 | T | G | intergenic variant | . | 0.908734 | 0.2721086097 | 42027 | 21178 | 11984 | 1925 | 0.0548636247 | TOPMED | D70[Agranulocytosis] | ICD10 | 178 | 0.341826 | 0.249288 | 1.16585 | 0.18411 | 29.9926 | 3.208649076 | 4.34E-08 | 0.450341 | 0.111849 | 14.7271 | 1.568847071 | 0.0001242453089 | 3.4571 | D3_AGRANULOCYTOSIS | 0.9978993694 | 0.965811 | chr2:82370172:T:G | 0.252392 | 0.9961095973 | 0.9796478056 | yes | NA | NA | NA | 40102 | 154 | 0.215186 | 0.163876 | 1.72423 | 1.240092533 | 0.1891489784 | 3.179262089 | 3.86E-07 | 1.484793225 | 0.001704847048 | 0.9523494267 | 0.7954165915 | 0.001114915183 | 2.511244152 | 0.003593795232 | 1.315789199 | 0.09794628175 | 0.9242147339 | 0.74126435 | 0.03747608 |
34 | chr2:96604271:A:C | 2 | 96604271 | A | C | missense variant | KANSL3 | 0.577806 | 0.003505622339 | 42027 | 41075 | 277 | 6 | 0.0001450747135 | TOPMED | M65[Synovitis and tenosynovitis] | ICD10 | 2729 | 0.00816941 | 0.00766856 | 5.30372 | 1.1105 | 30.1395 | 201.0834508 | 4.02E-08 | 0.173619 | 0.221824 | 0.6126 | 1.189602241 | 0.4338104405 | 7.03301 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42021 | 2724 | -0.295816 | 0.228187 | 1.68059 | 0.7439242975 | 0.1948457781 | 147.2774881 | 1.18E-05 | 1.3128891 | 0.2047616145 | 0.7552652861 | 0.3146173499 | 1.19E-05 | 134.4917908 | 2.46E-05 | 1.146846996 | 0.6325373659 | 0.4323011917 | 0.06661043 | 8.56E-06 |
35 | chr2:121338442:C:A | 2 | 121338442 | C | A | 3 prime utr variant | CLASP1 | 0.812573 | 0.19405315 | 42027 | 21684 | 8928 | 757 | 0.02413210494 | TOPMED | B98[Other specified infectious agents as the cause of diseases classified to other chapters] | ICD10 | 802 | 0.240009 | 0.21202 | 0.801784 | 0.132076 | 30.251 | 2.229514837 | 3.80E-08 | 0.229237 | 0.0662367 | 11.4941 | 1.257640064 | 0.0006981680975 | 4.26464 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 41270 | 766 | 0.0942667 | 0.0781272 | 1.45583 | 1.098852771 | 0.2275941003 | 2.842179797 | 4.57E-09 | 1.155943269 | 0.06510650262 | 0.8646476218 | 0.1453842931 | 1.73E-07 | 2.916076431 | 2.63E-06 | 1.174238828 | 0.1107088728 | 0.8767311741 | 0.30618286 | 4.38E-05 |
36 | chr2:146088185:A:T | 2 | 146088185 | A | T | intergenic variant | . | 0.802931 | 0.01714516577 | 42027 | 38924 | 1324 | 17 | 0.0004222029057 | TOPMED | F12[Mental and behavioural disorders due to use of cannabinoids] | ICD10 | 162 | 0.0636047 | 0.0264368 | 4.34846 | 0.608421 | 30.7323 | 77.35923792 | 2.96E-08 | 1.07405 | 0.24028 | 15.1732 | 2.927210729 | 9.81E-05 | 3.52003 | F5_CANNABIS | 6.361028003 | 0.280455 | chr2:146028698:C:T | 0.250042 | 5.803899388 | 0.0002646000976 | yes | NA | NA | NA | 42010 | 159 | 0.760751 | 0.291175 | 5.63189 | 2.139882669 | 0.01763680853 | 93.73715587 | 6.91E-09 | 2.622494423 | 0.0004948920645 | 1.542056986 | 0.2376731092 | 0.0004904347731 | 52.37666416 | 0.0005815151794 | 3.152632909 | 0.001769684243 | 2.47534793 | 0.03494484 | 0.12070088 |
37 | chr2:170538482:C:T | 2 | 170538482 | C | T | intron variant | MYO3B | 0.80304 | 0.01321376235 | 42027 | 39393 | 1021 | 17 | 0.0004204694418 | TOPMED | K13[Other diseases of lip and oral mucosa] | ICD10 | 2618 | 0.0276351 | 0.0208362 | 2.70517 | 0.431362 | 30.1984 | 14.95685914 | 3.90E-08 | 0.280779 | 0.101521 | 7.20731 | 1.324160932 | 0.007260725198 | 5.26989 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42010 | 2611 | 0.165381 | 0.113609 | 2.11906 | 1.179842553 | 0.1454758824 | 13.19962841 | 8.27E-07 | 1.329671599 | 0.01177162625 | 1.142124523 | 0.2844679544 | 6.03E-05 | 6.61183445 | 0.02317024481 | 1.467114176 | 0.007876902178 | 1.39152223 | 0.02917075 | 0.16120919 |
38 | chr2:171680912:G:A | 2 | 171680912 | G | A | intergenic variant | . | 0.872639 | 0.3279087723 | 42027 | 16974 | 12057 | 2253 | 0.0720176448 | TOPMED | A09[Other gastroenteritis and colitis of infectious and unspecified origin] | ICD10 | 2404 | 0.269103 | 0.300779 | -0.454269 | 0.0860859 | 30.9236 | 0.634911919 | 2.68E-08 | -0.17858 | 0.0364471 | 24.3726 | 0.8364571376 | 7.94E-07 | 1.47101 | AB1_GASTROENTERITIS_NOS | 0.9811528708 | 0.292681 | chr2:172064809:G:A | 0.602207 | 0.7471816132 | 0.002412126056 | yes | NA | NA | NA | 39774 | 2317 | -0.14257 | 0.0421919 | 11.5121 | 0.8671268533 | 0.0006914328356 | 0.6340708255 | 5.76E-05 | 0.8336043325 | 8.86E-06 | 0.8836289382 | 0.01658428825 | 0.05986725376 | 0.5557175625 | 9.39E-05 | 0.8078818852 | 4.70E-05 | 0.8802260432 | 0.05199445 | 0.03452249 |
39 | chr2:206949775:G:T | 2 | 206949775 | G | T | intron variant | CPO | 0.828451 | 0.0003577988216 | 42027 | 41908 | 24 | 3 | 7.15E-05 | WES5K | J84[Other interstitial pulmonary diseases] | ICD10 | 161 | 0.0192484 | 0.000617138 | 8.14744 | 1.99148 | 33.5311 | 3454.524154 | 7.01E-09 | 2.98319 | 0.516095 | 24.3199 | 19.75072106 | 8.16E-07 | 2.06571 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42024 | 158 | -0.337732 | 2.3634 | 0.0204207 | 0.7133864498 | 0.8863682682 | 933951301.8 | 0.9458975546 | 41.87699168 | 1.50E-10 | 4.13E-05 | 0.9698448396 | 0.9774852174 | 691005704.4 | 0.9562799614 | 47.20070441 | 3.60E-07 | 6.80E-05 | 0.97806215 | 0.98243834 |
40 | chr2:233763993:C:A | 2 | 233763993 | C | A | intron variant | UGT1A6 | 1.01798 | 0.5278794772 | 42027 | 15152 | 19859 | 7012 | 0.1668610047 | WES5K | E80[Disorders of porphyrin and bilirubin metabolism] | ICD10 | 76 | 0.835526 | 0.402358 | 1.85508 | 0.154672 | 97.5286 | 6.392209607 | 5.31E-23 | 1.16738 | 0.110454 | 84.1946 | 3.213562067 | 4.48E-20 | 2.9267 | E4_PORBILIR | 5.753394336 | 2.31E-74 | NA | NA | NA | NA | yes | NA | NA | NA | 35030 | 20 | 0.725944 | 0.451321 | 2.58723 | 2.066681126 | 0.107728348 | 15.82049522 | 7.47E-25 | 7.583958596 | 3.43E-20 | 1.705016915 | 0.2815440097 | 0.003807694482 | 20.09334463 | 4.02E-15 | 8.392293146 | 2.75E-12 | 0.9484584222 | 0.93737062 | 0.00331887 |
41 | chr2:233763993:G:T | 2 | 233763993 | G | T | intron variant | UGT1A6 | 1.01794 | 0.5280517255 | 42027 | 15146 | 19861 | 7016 | 0.1669561907 | TOPMED | E80[Disorders of porphyrin and bilirubin metabolism] | ICD10 | 76 | 0.835526 | 0.402478 | 1.85495 | 0.154675 | 97.515 | 6.391378674 | 5.34E-23 | 1.16737 | 0.110463 | 84.1816 | 3.213529931 | 4.51E-20 | 2.9266 | E4_PORBILIR | 5.753394336 | 2.31E-74 | NA | NA | NA | NA | yes | NA | NA | NA | 35011 | 19 | 0.476684 | 0.465477 | 1.04873 | 1.610724375 | 0.3057996613 | 15.81079252 | 7.64E-25 | 7.580904561 | 3.49E-20 | 1.704948997 | 0.2815788898 | 0.003804397276 | 20.08011151 | 4.07E-15 | 8.388573216 | 2.78E-12 | 0.9486406835 | 0.93759794 | 0.00331781 |
42 | chr2:236834949:C:T | 2 | 236834949 | C | T | regulatory region variant | . | 0.893253 | 0.00714181959 | 42027 | 41011 | 572 | 9 | 0.0002163877669 | TOPMED | F40[Phobic anxiety disorders] | ICD10 | 378 | 0.015847 | 0.00945156 | 4.9244 | 0.683465 | 30.9077 | 137.6067528 | 2.71E-08 | 0.714674 | 0.303147 | 4.53678 | 2.043520386 | 0.03317416497 | 6.08847 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42018 | 376 | 0.264803 | 0.429328 | 0.380424 | 1.303174225 | 0.5373769078 | 33.13557998 | 1.92E-05 | 1.575765515 | 0.1973995649 | 0.8160764347 | 0.6877208642 | 0.002601409997 | 0.000195529664 | 0.9712863434 | 0.7479427774 | 0.6813517067 | 0.7623754809 | 0.70396154 | 0.97309971 |
43 | chr3:23530638:C:A | 3 | 23530638 | C | A | intron variant | UBE2E2 | 0.841019 | 0.0008358608172 | 42027 | 41838 | 64 | 3 | 7.16E-05 | TOPMED | E14[Unspecified diabetes mellitus] | ICD10 | 804 | 0.00393123 | 0.00161204 | 7.88761 | 1.60905 | 29.8745 | 2664.069181 | 4.61E-08 | 1.30178 | 0.433427 | 6.6821 | 3.675833832 | 0.009738677853 | 5.32485 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42024 | 801 | -1.06585 | 0.780113 | 1.8667 | 0.3444349606 | 0.1718529533 | 38014403.41 | 0.9230943455 | 3.746481798 | 0.002408336321 | 8.02E-06 | 0.9431228563 | 0.95994653 | 125494604.5 | 0.9497971229 | 6.740323821 | 2.92E-05 | 9.90E-06 | 0.95647495 | 0.96166721 |
44 | chr3:54384060:A:G | 3 | 54384060 | A | G | intron variant | CACNA2D3 | 0.779055 | 0.01310043668 | 42027 | 39324 | 1024 | 10 | 0.000247782348 | TOPMED | M70[Soft tissue disorders related to use, overuse and pressure] | ICD10 | 821 | 0.02758 | 0.0203687 | 4.20474 | 0.640931 | 29.9062 | 67.00317458 | 4.53E-08 | 0.43966 | 0.173549 | 5.76562 | 1.552179388 | 0.01634255668 | 5.55677 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42017 | 818 | 0.274087 | 0.207253 | 1.74894 | 1.315329231 | 0.1860103029 | 41.10871101 | 3.84E-07 | 1.535513472 | 0.02299775788 | 1.236867022 | 0.3141988028 | 8.87E-05 | 69.43417583 | 4.68E-08 | 1.776279453 | 0.01299378835 | 1.250424225 | 0.41870424 | 6.04E-05 |
45 | chr3:60917770:T:C | 3 | 60917770 | T | C | intron variant | FHIT | 0.939363 | 0.009543764319 | 44186 | 43017 | 801 | 14 | 0.0003194013506 | TOPMED | Peptic_ulcer_disease | CUSTOM | 1557 | 0.0149836 | 0.0112551 | 3.83677 | 0.56719 | 31.6253 | 46.37543959 | 1.87E-08 | 0.490903 | 0.162764 | 8.06322 | 1.633790867 | 0.004517311092 | 5.38309 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 44172 | 1553 | 0.305012 | 0.200415 | 2.31618 | 1.356641283 | 0.1280336127 | 32.30522255 | 1.60E-07 | 1.437111588 | 0.04198976439 | 1.109195964 | 0.6104038142 | 2.49E-05 | 18.45135429 | 0.000798264239 | 1.269523532 | 0.3293165993 | 0.9984224092 | 0.99548456 | 0.00461357 |
46 | chr3:64802433:A:G | 3 | 64802433 | A | G | intron variant | ADAMTS9-AS2 | 0.999774 | 0.02725638611 | 42027 | 39775 | 2159 | 35 | 0.000833948867 | WES5K | J34[Other disorders of nose and nasal sinuses] | ICD10 | 4790 | 0.0298528 | 0.0264822 | 2.06513 | 0.340484 | 32.0234 | 7.886323053 | 1.52E-08 | 0.126141 | 0.0678107 | 3.46031 | 1.134442113 | 0.06285791915 | 6.61559 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 41992 | 4774 | 0.0171412 | 0.0699058 | 0.0601249 | 1.017288953 | 0.8062985894 | 6.941672537 | 1.42E-08 | 1.119251319 | 0.08209136387 | 1.010384342 | 0.8816214313 | 1.80E-07 | 7.149967616 | 1.86E-06 | 1.091949541 | 0.2788811538 | 0.9741569462 | 0.76469524 | 6.13E-06 |
47 | chr3:64802433:A:G | 3 | 64802433 | A | G | intron variant | ADAMTS9-AS2 | 0.984984 | 0.02583884399 | 42027 | 39775 | 2050 | 30 | 0.0007167602437 | TOPMED | J34[Other disorders of nose and nasal sinuses] | ICD10 | 4790 | 0.0296851 | 0.0257826 | 2.1184 | 0.345174 | 33.0687 | 8.317818326 | 8.90E-09 | 0.145893 | 0.0656862 | 4.77541 | 1.157072375 | 0.0288688843 | 6.51125 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 41997 | 4776 | 0.0545881 | 0.0709921 | 0.591257 | 1.056105515 | 0.4419335776 | 7.241684501 | 7.54E-08 | 1.13262274 | 0.06033959246 | 1.031810773 | 0.6571196623 | 1.05E-06 | 7.072105359 | 1.53E-05 | 1.097482016 | 0.2638623582 | 0.9965681145 | 0.96907631 | 5.04E-05 |
48 | chr3:141734432:C:T | 3 | 141734432 | C | T | upstream gene variant | RNF7 | 0.998712 | 0.009964301597 | 42027 | 41184 | 805 | 12 | 0.0002857074832 | TOPMED | K14[Diseases of tongue] | ICD10 | 806 | 0.0176956 | 0.00983817 | 4.35676 | 0.662888 | 32.2765 | 78.00399162 | 1.34E-08 | 0.42769 | 0.230997 | 3.42803 | 1.533710557 | 0.06409881489 | 6.68065 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42015 | 800 | -0.16151 | 0.241523 | 0.44718 | 0.8508580228 | 0.5036768613 | 48.42998272 | 4.71E-10 | 1.521418925 | 0.03032534667 | 0.8886151261 | 0.6464640661 | 3.26E-07 | 98.87262399 | 2.18E-08 | 1.702198464 | 0.02904344006 | 0.9448186087 | 0.86179422 | 6.63E-06 |
49 | chr3:176679876:G:C | 3 | 176679876 | G | C | intron variant | LINC01208 | 0.717187 | 0.0042663472 | 42027 | 40727 | 343 | 3 | 7.30E-05 | TOPMED | E22[Hyperfunction of pituitary gland] | ICD10 | 156 | 0.0229007 | 0.00941386 | 7.05826 | 1.27422 | 31.7898 | 1162.420793 | 1.72E-08 | 1.24901 | 0.403175 | 6.87935 | 3.486889228 | 0.008719669013 | 5.7055 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42024 | 153 | -0.775497 | 0.721232 | 1.15614 | 0.4604748681 | 0.2822675801 | 396818632.5 | 0.9458113835 | 4.328840571 | 0.0003384983781 | 2.30E-06 | 0.9699277253 | 0.9887940475 | 606296620.4 | 0.9550826308 | 4.722072257 | 0.001994784994 | 2.33E-06 | 0.97629257 | 0.99084777 |
50 | chr3:194350072:G:A | 3 | 194350072 | G | A | intron variant | CPN2 | 0.85288 | 0.5545378851 | 42027 | 9630 | 15474 | 4251 | 0.14481349 | TOPMED | J03[Acute tonsillitis] | ICD10 | 5616 | 0.448792 | 0.469221 | -0.200539 | 0.0356879 | 32.3181 | 0.8182895761 | 1.31E-08 | -0.11552 | 0.0226418 | 26.0284 | 0.890902754 | 3.36E-07 | 1.41001 | J10_TONSILLITIS | 0.9855400637 | 0.518738 | chr3:194339757:G:A | 0.305493 | 0.8756699749 | 0.002479019826 | yes | NA | NA | NA | 37776 | 5089 | -0.120449 | 0.0264694 | 20.7122 | 0.8865222988 | 5.34E-06 | 0.8696348529 | 0.005819637376 | 0.9315517688 | 0.006809448446 | 0.963992409 | 0.3369172288 | 0.232552776 | 0.906258768 | 0.1287650663 | 0.965784664 | 0.3021283456 | 1.008702147 | 0.86087947 | 0.25540413 |
51 | chr4:81204967:C:G | 4 | 81204967 | C | G | synonymous variant | PRKG2 | 0.967968 | 0.009416109461 | 44186 | 43185 | 795 | 13 | 0.0002955015571 | WES5K | Glomerulonephritis_and_other_nephritides | CUSTOM | 518 | 0.0152712 | 0.0103452 | 4.79042 | 0.648447 | 30.5564 | 120.3519059 | 3.24E-08 | 0.511736 | 0.321448 | 2.53438 | 1.668184651 | 0.1113907171 | 6.535899 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 44173 | 514 | -0.298208 | 0.327759 | 0.82781 | 0.7421469571 | 0.3629067115 | 51.9389208 | 1.32E-09 | 1.511130728 | 0.1154211743 | 0.7175935656 | 0.3884591118 | 4.24E-06 | 71.82141558 | 1.82E-06 | 1.284521672 | 0.4884565309 | 0.6418393578 | 0.38310843 | 0.00013066 |
52 | chr4:81731628:T:C | 4 | 81731628 | T | C | intron variant | RASGEF1B | 0.551449 | 0.04077104424 | 42027 | 27668 | 2286 | 33 | 0.001100476873 | TOPMED | B35[Dermatophytosis] | ICD10 | 6939 | 0.0962973 | 0.0923988 | 1.05528 | 0.181163 | 30.1819 | 2.87277942 | 3.93E-08 | 0.103389 | 0.0443154 | 5.37344 | 1.108922696 | 0.02044560659 | 5.71582 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 41994 | 6933 | 0.0962894 | 0.0448458 | 4.55751 | 1.10107767 | 0.03277479621 | 1.748461331 | 0.2203880745 | 1.11853187 | 0.05000151139 | 1.10750659 | 0.08171189478 | 0.4390020031 | 2.562797102 | 0.04626385795 | 1.167727987 | 0.03231163038 | 1.137736381 | 0.08606083 | 0.15948378 |
53 | chr4:179770094:G:A | 4 | 179770094 | G | A | intergenic variant | . | 0.950257 | 0.1405733186 | 23710 | 17149 | 4840 | 385 | 0.01720747296 | TOPMED | O48[Prolonged pregnancy] | ICD10 | 1085 | 0.152854 | 0.134863 | 0.971887 | 0.159072 | 30.6739 | 2.64292696 | 3.05E-08 | 0.195328 | 0.0640836 | 8.92745 | 1.215709674 | 0.002809182796 | 4.96393 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 23325 | 1047 | 0.0731532 | 0.0784717 | 0.869043 | 1.075895351 | 0.3512206158 | 2.371401807 | 1.20E-06 | 1.111695565 | 0.1125010273 | 0.9180738851 | 0.2981507748 | 1.07E-05 | 3.074791341 | 3.77E-08 | 1.161617444 | 0.06657951615 | 0.8844355091 | 0.23496475 | 1.16E-06 |
54 | chr5:5261658:G:A | 5 | 5261658 | G | A | intron variant | ADAMTS16 | 0.755045 | 0.005225398604 | 42027 | 40835 | 419 | 5 | 0.0001211856807 | TOPMED | E14[Unspecified diabetes mellitus] | ICD10 | 804 | 0.0110254 | 0.00908844 | 5.69041 | 0.838762 | 34.1478 | 296.0149619 | 5.11E-09 | 0.58072 | 0.34558 | 2.82381 | 1.787324841 | 0.0928752509 | 7.25963 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42022 | 801 | -0.11644 | 0.348358 | 0.111726 | 0.8900835004 | 0.7381880323 | 158.622919 | 4.68E-08 | 1.355263586 | 0.3755320663 | 0.4393378595 | 0.1600124595 | 6.90E-06 | 218.0232747 | 1.23E-05 | 1.665230586 | 0.1940873037 | 0.6920214723 | 0.5330461 | 0.00032736 |
55 | chr5:28354818:C:T | 5 | 28354818 | C | T | intergenic variant | . | 0.684268 | 0.01136831899 | 44186 | 40786 | 924 | 7 | 0.0001677973009 | TOPMED | Osteoporosis | CUSTOM | 448 | 0.0260059 | 0.0235846 | 6.27891 | 0.811462 | 30.6833 | 533.2071512 | 3.04E-08 | 0.297912 | 0.297747 | 1.00111 | 1.347043243 | 0.3170428768 | 7.018568 | M13_OSTEOPOROSIS | 1.221441844 | 0.0230627 | NA | NA | NA | NA | yes | NA | NA | NA | 44179 | 446 | -0.042821 | 0.299806 | 0.0204001 | 0.9580828716 | 0.8864254163 | 141.1306233 | 3.88E-08 | 1.110045554 | 0.7405392049 | 0.6880912836 | 0.3380759909 | 1.66E-06 | 148.8892093 | 3.19E-08 | 1.54924561 | 0.2167590734 | 0.8212187838 | 0.67292539 | 3.09E-05 |
56 | chr5:64110691:C:T | 5 | 64110691 | C | T | intergenic variant | . | 0.995053 | 0.00151451911 | 42027 | 41864 | 115 | 6 | 0.0001429081815 | TOPMED | K52[Other noninfective gastroenteritis and colitis] | ICD10 | 1410 | 0.00710469 | 0.00165966 | 4.73329 | 0.856481 | 31.705 | 113.6689186 | 1.79E-08 | 1.50112 | 0.240196 | 27.8818 | 4.486711374 | 1.29E-07 | 0.85649 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42021 | 1406 | 1.12472 | 0.316216 | 9.84021 | 3.079354509 | 0.001707379254 | 80.2034889 | 5.57E-07 | 4.051924922 | 2.82E-08 | 2.554371789 | 0.008566073182 | 0.02333064964 | 40.41348144 | 0.0002707656004 | 3.501787969 | 0.000351856597 | 2.19572349 | 0.13262345 | 0.14243806 |
57 | chr5:73372589:G:A | 5 | 73372589 | G | A | regulatory region variant | . | 1.0063 | 0.002481330375 | 42027 | 41809 | 202 | 3 | 7.14E-05 | WES5K | H26[Other cataract] | ICD10 | 1989 | 0.00276545 | 0.0025503 | 9.85002 | 1.58455 | 30.2397 | 18958.73397 | 3.82E-08 | 0.720064 | 0.443146 | 2.64028 | 2.054564699 | 0.1041854328 | 6.435957 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42024 | 1987 | -0.0582008 | 0.445304 | 0.0170823 | 0.9434604816 | 0.8960133904 | 10013.68858 | 2.19E-06 | 1.540797659 | 0.2411970104 | 0.8140362065 | 0.6420941153 | 6.53E-06 | 13146.3295 | 2.01E-06 | 3.035072854 | 0.01103775182 | 1.119461915 | 0.85061862 | 6.48E-05 |
58 | chr5:91760313:C:G | 5 | 91760313 | C | G | intron variant | . | 0.739472 | 0.01086630695 | 42027 | 39597 | 850 | 10 | 0.000247176014 | TOPMED | J34[Other disorders of nose and nasal sinuses] | ICD10 | 4790 | 0.0226359 | 0.0206762 | 2.39249 | 0.415632 | 31.1188 | 10.9407024 | 2.43E-08 | 0.156536 | 0.0900611 | 3.02102 | 1.169452862 | 0.08219208547 | 6.52974 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42017 | 4785 | 0.0970852 | 0.0913666 | 1.1291 | 1.101954256 | 0.2879678474 | 8.357980627 | 0.0008709068241 | 1.079269342 | 0.4646909804 | 0.9889791376 | 0.9199798877 | 0.001460274133 | 4.502173607 | 0.08661203146 | 1.092927196 | 0.4896809897 | 1.045699156 | 0.73774887 | 0.12228634 |
59 | chr5:129155848:G:A | 5 | 129155848 | G | A | intron variant | . | 0.78818 | 0.04152295393 | 44186 | 35848 | 2896 | 105 | 0.002702772272 | TOPMED | Gastro.oesophageal_reflux_disease | CUSTOM | 9074 | 0.0704449 | 0.0655492 | 0.950335 | 0.161934 | 31.6616 | 2.586576017 | 1.84E-08 | 0.133774 | 0.0390697 | 11.5354 | 1.143134442 | 0.0006828259223 | 4.57064 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 44081 | 9040 | 0.0988824 | 0.0409315 | 5.77212 | 1.103936469 | 0.01628245925 | 2.439030049 | 6.66E-05 | 1.12764826 | 0.009113552118 | 1.067228554 | 0.1902067342 | 0.001540512847 | 3.324193221 | 8.36E-06 | 1.213697074 | 0.0006381725349 | 1.129290894 | 0.04792324 | 0.00096839 |
60 | chr5:129155848:G:A | 5 | 129155848 | G | A | intron variant | . | 0.786729 | 0.04166783816 | 42027 | 34085 | 2770 | 97 | 0.002625027062 | TOPMED | K21[Gastro-oesophageal reflux disease] | ICD10 | 6361 | 0.0726563 | 0.0655039 | 1.03826 | 0.172995 | 31.9298 | 2.824298457 | 1.60E-08 | 0.161437 | 0.0441008 | 13.0845 | 1.175198418 | 0.0002977419306 | 4.27014 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 41930 | 6331 | 0.112319 | 0.0465172 | 5.74154 | 1.118869723 | 0.01656837822 | 3.145377939 | 1.15E-06 | 1.163663812 | 0.003554067142 | 1.075900087 | 0.1963893305 | 9.82E-05 | 4.050110137 | 1.49E-06 | 1.265660702 | 0.0002373446372 | 1.159262144 | 0.03486021 | 0.00046696 |
61 | chr5:129239038:C:T | 5 | 129239038 | C | T | intergenic variant | . | 0.715648 | 0.005543380173 | 44186 | 42427 | 467 | 3 | 6.99E-05 | TOPMED | GNH0011_COPD | CUSTOM | 1061 | 0.0124502 | 0.0116914 | 7.52254 | 1.01453 | 29.7623 | 1849.25845 | 4.88E-08 | 0.115669 | 0.272314 | 0.180423 | 1.122624222 | 0.6710100116 | 7.137949 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 44183 | 1059 | -0.176021 | 0.272749 | 0.416491 | 0.8386003725 | 0.5186925378 | 5490.740968 | 4.30E-11 | 1.392961476 | 0.2392329329 | 0.9763058141 | 0.9402221727 | 2.46E-09 | 972153164.8 | 0.9273065035 | 2.031377565 | 0.02286547777 | 1.305788549 | 0.46140106 | 0.92915362 |
62 | chr5:130165261:G:A | 5 | 130165261 | G | A | intron variant | CHSY3 | 0.999444 | 0.01591871296 | 42027 | 40677 | 1286 | 15 | 0.00035733003 | WES5K | M50[Cervical disc disorders] | ICD10 | 484 | 0.0258264 | 0.0159357 | 4.75192 | 0.646036 | 30.7133 | 115.8064195 | 2.99E-08 | 0.550451 | 0.210122 | 5.91565 | 1.734034891 | 0.01500686584 | 5.70046 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42012 | 480 | 0.129069 | 0.26999 | 0.228533 | 1.137768627 | 0.6326142931 | 52.44751545 | 1.05E-09 | 1.694501048 | 0.01054033856 | 1.161993985 | 0.5486992183 | 6.90E-06 | 159.9633284 | 3.34E-09 | 1.34815834 | 0.334324963 | 0.6063303184 | 0.27092837 | 1.08E-06 |
63 | chr5:130167529:A:G | 5 | 130167529 | A | G | intron variant | CHSY3 | 0.953444 | 0.01364054853 | 42027 | 40711 | 1100 | 13 | 0.0003108263198 | TOPMED | M50[Cervical disc disorders] | ICD10 | 484 | 0.024453 | 0.014543 | 4.75192 | 0.646036 | 30.7133 | 115.8064195 | 2.99E-08 | 0.613971 | 0.220759 | 6.59079 | 1.847754282 | 0.01025085287 | 5.53493 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42014 | 480 | 0.152055 | 0.288954 | 0.276915 | 1.164224267 | 0.5987313518 | 64.19560288 | 1.06E-09 | 1.834064504 | 0.004656779822 | 1.210294932 | 0.4730694009 | 1.09E-05 | 197.958837 | 8.09E-09 | 1.292344369 | 0.4511689007 | 0.4262197372 | 0.1437399 | 2.35E-06 |
64 | chr5:165755237:G:A | 5 | 165755237 | G | A | intron variant | . | 1.02137 | 0.1908886838 | 42027 | 29376 | 11309 | 1276 | 0.03040918949 | WES5K | D12[Benign neoplasm of colon, rectum, anus and anal canal] | ICD10 | 755 | 0.189328 | 0.165061 | 0.993633 | 0.155656 | 33.1714 | 2.701029509 | 8.44E-09 | 0.180903 | 0.0685596 | 6.71768 | 1.198298939 | 0.009546188374 | 6.05357 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 40752 | 702 | -0.107853 | 0.0894796 | 1.45283 | 0.8977595574 | 0.228074641 | 2.6838825 | 1.19E-10 | 1.167975834 | 0.02231778762 | 0.8567562821 | 0.08457810852 | 1.02E-08 | 2.577405348 | 4.19E-06 | 1.138484324 | 0.1515205468 | 0.8424224948 | 0.14686136 | 2.12E-05 |
65 | chr5:165757061:T:TA | 5 | 165757061 | T | TA | intron variant | . | 0.985855 | 0.1862167821 | 42027 | 28954 | 11033 | 1109 | 0.02698559471 | TOPMED | D12[Benign neoplasm of colon, rectum, anus and anal canal] | ICD10 | 755 | 0.190551 | 0.165135 | 0.966545 | 0.155698 | 31.5544 | 2.628846088 | 1.94E-08 | 0.18771 | 0.0696403 | 7.0099 | 1.206483584 | 0.008106063472 | 5.62117 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 40918 | 715 | 0.0375031 | 0.08779 | 0.182492 | 1.038215216 | 0.6692401687 | 2.253441397 | 2.85E-06 | 1.107293274 | 0.1528834391 | 0.8845105525 | 0.1733543997 | 1.21E-05 | 2.433297317 | 5.47E-05 | 1.106383722 | 0.2807751601 | 0.8444914939 | 0.15968868 | 0.00010961 |
66 | chr6:1973850:C:T | 6 | 1973850 | C | T | intron variant | GMDS | 0.723109 | 0.05105398915 | 44186 | 32007 | 3260 | 92 | 0.002601883537 | TOPMED | Hodgkin_Lymphoma | CUSTOM | 922 | 0.106848 | 0.0893001 | 1.56589 | 0.23951 | 30.9378 | 4.786933411 | 2.66E-08 | 0.324338 | 0.0911662 | 11.819 | 1.383114721 | 0.0005863136431 | 4.34255 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 44094 | 915 | 0.262042 | 0.0966256 | 6.9917 | 1.299581124 | 0.008188795018 | 3.629921983 | 0.001646015641 | 1.189878362 | 0.1305058667 | 1.054612807 | 0.6802758052 | 0.0126460879 | 4.300671177 | 0.002411951837 | 1.18620404 | 0.249612417 | 1.007152125 | 0.96651144 | 0.01241569 |
67 | chr6:1973850:C:T | 6 | 1973850 | C | T | intron variant | GMDS | 0.723109 | 0.05105398915 | 44186 | 32007 | 3260 | 92 | 0.002601883537 | TOPMED | Non.Hodgkin_Lymphoma | CUSTOM | 884 | 0.106476 | 0.0893231 | 1.62136 | 0.240218 | 32.7399 | 5.059967195 | 1.05E-08 | 0.319919 | 0.0931963 | 11.013 | 1.377016222 | 0.0009047737666 | 4.9339 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 44094 | 877 | 0.251156 | 0.0988817 | 6.14498 | 1.285510608 | 0.01317862196 | 3.842646484 | 0.001028382441 | 1.165321262 | 0.1962782695 | 1.016617191 | 0.9017690694 | 0.006336147666 | 4.499331775 | 0.001782730669 | 1.157665265 | 0.3380106455 | 0.9643923885 | 0.83681158 | 0.0072377 |
68 | chr6:24532379:A:G | 6 | 24532379 | A | G | intron variant | ALDH5A1 | 0.971049 | 0.01906121421 | 24387 | 23364 | 890 | 9 | 0.0003709351688 | TOPMED | GNH0250_Preeclampsia_Eclampsia_broad | CUSTOM | 801 | 0.021997 | 0.0198541 | 4.24442 | 0.683253 | 32.2049 | 69.71531353 | 1.39E-08 | 0.124739 | 0.191874 | 0.42264 | 1.13285274 | 0.515622666 | 7.570122 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 24378 | 797 | -0.148581 | 0.195874 | 0.575405 | 0.861930188 | 0.4481196623 | 34.48757652 | 1.72E-06 | 1.029941511 | 0.8737182635 | 0.7659378496 | 0.2154327028 | 1.89E-06 | 0.0001511672005 | 0.9606132532 | 0.8752942939 | 0.5949078073 | 0.881515363 | 0.61589542 | 0.96171924 |
69 | chr6:41493001:A:G | 6 | 41493001 | A | G | intron variant | FOXP4-AS1 | 1.00685 | 0.1984661925 | 44186 | 30205 | 12108 | 1425 | 0.0325803649 | WES5K | Primary_Malignancy_Other | CUSTOM | 614 | 0.201192 | 0.173326 | 1.03911 | 0.159105 | 33.7341 | 2.826700131 | 6.32E-09 | 0.198681 | 0.0738383 | 6.94933 | 1.21979279 | 0.008385133859 | 6.1229 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42761 | 567 | -0.111064 | 0.0970365 | 1.31002 | 0.8948814747 | 0.2523910788 | 2.653694683 | 7.82E-10 | 1.190749925 | 0.01669805496 | 0.8661512593 | 0.1420704425 | 1.43E-07 | 2.47630414 | 1.30E-05 | 1.128214589 | 0.2018942062 | 0.8289309824 | 0.13435402 | 4.25E-05 |
70 | chr6:42057580:G:A | 6 | 42057580 | G | A | 3 prime UTR variant | TAF8 | 1.02316 | 0.1207773935 | 42027 | 33432 | 7989 | 598 | 0.01423165711 | WES5K | J22[Unspecified acute lower respiratory infection] | ICD10 | 5314 | 0.114407 | 0.108581 | 0.659677 | 0.106832 | 34.0232 | 1.934167497 | 5.45E-09 | 0.0618878 | 0.0343291 | 3.25001 | 1.063842975 | 0.07142331444 | 7.11778 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 41429 | 5192 | -0.0528691 | 0.0391741 | 1.8214 | 0.9485041636 | 0.1771466729 | 1.878029988 | 2.45E-09 | 1.05627863 | 0.1012587464 | 0.944839949 | 0.1474808093 | 9.02E-09 | 1.796905473 | 1.93E-05 | 1.081493613 | 0.06617546392 | 0.9868187997 | 0.78987369 | 0.00020693 |
71 | chr6:42069610:T:C | 6 | 42069610 | T | C | intron variant | TAF8 | 0.928768 | 0.09851025232 | 42027 | 32798 | 6464 | 352 | 0.008885747463 | TOPMED | J22[Unspecified acute lower respiratory infection] | ICD10 | 5314 | 0.106978 | 0.101213 | 0.727629 | 0.115391 | 35.1174 | 2.07016642 | 3.10E-09 | 0.0744876 | 0.0365075 | 4.11156 | 1.077331985 | 0.04259121212 | 7.13737 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 41675 | 5241 | 0.000256669 | 0.040438 | 4.03E-05 | 1.000256702 | 0.99493569 | 1.966732577 | 6.20E-07 | 1.040823058 | 0.2908836738 | 0.9505632076 | 0.2359534288 | 9.39E-07 | 1.980665664 | 0.0001034720681 | 1.083037562 | 0.09727228825 | 1.002228057 | 0.96713519 | 0.0007749 |
72 | chr6:51529735:A:G | 6 | 51529735 | A | G | intergenic variant | . | 0.653037 | 0.001981537867 | 42027 | 41300 | 154 | 5 | 0.0001206010758 | TOPMED | B97[Viral agents as the cause of diseases classified to other chapters] | ICD10 | 733 | 0.00863498 | 0.00437357 | 6.0636 | 1.16305 | 31.1446 | 429.9203676 | 2.40E-08 | 1.06372 | 0.325252 | 8.2923 | 2.897128286 | 0.003981346718 | 5.22072 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42022 | 729 | -0.36115 | 0.548952 | 0.43282 | 0.6968744595 | 0.5106084528 | 379.8085687 | 3.98E-07 | 3.189067519 | 0.0005621774166 | 0.3936370402 | 0.3551122681 | 0.0008019128251 | 211.8713901 | 1.07E-05 | 4.270907595 | 0.000134153225 | 0.7893031142 | 0.81587623 | 0.01358451 |
73 | chr6:52012065:G:GT | 6 | 52012065 | G | GT | intron variant | PKHD1 | 0.726921 | 0.003884417277 | 42027 | 40902 | 307 | 6 | 0.0001455780662 | TOPMED | B97[Viral agents as the cause of diseases classified to other chapters] | ICD10 | 733 | 0.013509 | 0.0072148 | 5.1924 | 0.802601 | 35.4187 | 179.8997947 | 2.66E-09 | 0.7593 | 0.256468 | 7.2321 | 2.136779951 | 0.007161104313 | 6.43022 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42021 | 728 | -0.173331 | 0.364647 | 0.225949 | 0.8408592444 | 0.634544377 | 466.5726681 | 6.48E-08 | 2.7473366 | 8.23E-05 | 1.062087998 | 0.8856075906 | 1.86E-05 | 288.3463888 | 1.03E-06 | 3.492089464 | 1.00E-05 | 1.472782124 | 0.40110819 | 0.00091238 |
74 | chr6:52012065:G:GT | 6 | 52012065 | G | GT | intron variant | PKHD1 | 0.726921 | 0.003884417277 | 42027 | 40902 | 307 | 6 | 0.0001455780662 | TOPMED | J12[Viral pneumonia, not elsewhere classified] | ICD10 | 604 | 0.0134171 | 0.00723574 | 5.60254 | 0.872475 | 35.0896 | 271.1141636 | 3.15E-09 | 0.740913 | 0.280511 | 5.81796 | 2.097849977 | 0.01586353605 | 6.70226 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42021 | 599 | -0.442929 | 0.407738 | 1.18007 | 0.6421527983 | 0.2773422279 | 748.9011505 | 1.20E-08 | 2.89432263 | 0.0001105692997 | 0.8476712831 | 0.7460623686 | 6.61E-06 | 482.1591367 | 2.74E-07 | 3.640005576 | 2.72E-05 | 1.075896464 | 0.9014136 | 0.00033073 |
75 | chr6:104459545:G:A | 6 | 104459545 | G | A | regulatory region variant | . | 0.95032 | 0.006584253163 | 42027 | 41265 | 525 | 11 | 0.0002631515992 | TOPMED | E11[Type 2 diabetes mellitus] | ICD10 | 6946 | 0.00786172 | 0.00789732 | 3.63687 | 0.667505 | 30.3336 | 37.97279567 | 3.64E-08 | 0.104547 | 0.130183 | 0.64493 | 1.110207572 | 0.421931549 | 7.064412 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42016 | 6940 | -0.056644 | 0.13376 | 0.179332 | 0.9449304047 | 0.6719485173 | 21.21384534 | 4.62E-06 | 1.092841944 | 0.5033545995 | 0.9077574598 | 0.4955003009 | 7.19E-06 | 53.23203072 | 9.42E-06 | 1.227371767 | 0.1935036977 | 0.9409557861 | 0.72646131 | 2.01E-05 |
76 | chr6:119122806:T:C | 6 | 119122806 | T | C | intron variant | FAM184A | 0.851239 | 0.01237920097 | 42027 | 40010 | 965 | 19 | 0.0004634824608 | TOPMED | K05[Gingivitis and periodontal diseases] | ICD10 | 775 | 0.0235597 | 0.017319 | 3.59271 | 0.498222 | 31.0133 | 36.33240345 | 2.56E-08 | 0.41622 | 0.184002 | 4.57746 | 1.5162194 | 0.03239515036 | 6.10179 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42008 | 772 | 0.223204 | 0.22359 | 0.996553 | 1.250075563 | 0.3181456577 | 15.16476536 | 2.26E-05 | 1.366860309 | 0.1236110136 | 1.065761679 | 0.7866586857 | 0.001061123108 | 23.68311976 | 3.20E-06 | 1.636613502 | 0.04433360606 | 1.099646459 | 0.75848318 | 0.00111964 |
77 | chr6:140417452:G:A | 6 | 140417452 | G | A | intron variant | . | 0.821831 | 0.003929888854 | 42027 | 41314 | 320 | 3 | 7.21E-05 | TOPMED | E05[Thyrotoxicosis [hyperthyroidism]] | ICD10 | 455 | 0.0136867 | 0.00568224 | 6.77312 | 1.24175 | 38.7718 | 874.0346324 | 4.76E-10 | 1.23483 | 0.302645 | 12.0402 | 3.437794046 | 0.000520654948 | 6.03862 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42024 | 453 | 0.832031 | 0.370797 | 4.05908 | 2.297981204 | 0.04393493619 | 285.3179839 | 5.42E-06 | 2.35403012 | 0.01677948123 | 1.186853417 | 0.73550375 | 0.0009091670295 | 173.1988444 | 0.0003375722692 | 2.708442431 | 0.02763573787 | 1.652861029 | 0.39249106 | 0.02501373 |
78 | chr6:144087557:T:C | 6 | 144087557 | T | C | regulatory region variant | . | 0.742107 | 0.005378442854 | 23710 | 22931 | 238 | 5 | 0.0002157590403 | TOPMED | O80[Single spontaneous delivery] | ICD10 | 8511 | 0.012126 | 0.00909794 | 8.22253 | 1.89145 | 32.3527 | 3723.911972 | 1.29E-08 | 0.418094 | 0.115787 | 12.9955 | 1.51906346 | 0.0003122482406 | 4.38534 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 23705 | 8501 | 0.351539 | 0.118711 | 8.71161 | 1.421253175 | 0.00316191361 | 17742224.76 | 0.8762951467 | 1.59093657 | 0.0005385300196 | 1.450722293 | 0.00743083533 | 0.8817216357 | 133962.6941 | 0.9171825085 | 1.271060067 | 0.152960849 | 1.172188756 | 0.36736937 | 0.91939215 |
79 | chr6:160102283:C:T | 6 | 160102283 | C | T | intron variant | IGF2R | 0.712377 | 0.004578586865 | 42027 | 40764 | 367 | 4 | 9.72E-05 | TOPMED | L82[Seborrhoeic keratosis] | ICD10 | 146 | 0.0405585 | 0.00986327 | 6.00776 | 0.889004 | 30.7556 | 406.5715792 | 2.93E-08 | 1.7303 | 0.316382 | 19.4027 | 5.642346358 | 1.06E-05 | 2.55836 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42023 | 145 | 1.55078 | 0.352624 | 13.3293 | 4.715146563 | 0.0002612823058 | 216.6831759 | 9.66E-06 | 4.492456336 | 0.0002825514916 | 3.087610367 | 0.0276391104 | 0.04624489249 | 0.0008890388065 | 0.98516558 | 3.295131134 | 0.09423386264 | 3.400357968 | 0.09070763 | 0.98004952 |
80 | chr6:162067560:G:T | 6 | 162067560 | G | T | intron variant | PRKN | 0.587724 | 0.01460019669 | 42027 | 32565 | 957 | 4 | 0.000119310386 | TOPMED | N12[Tubulo-interstitial nephritis, not specified as acute or chronic] | ICD10 | 505 | 0.076637 | 0.0609837 | 2.56683 | 0.375063 | 30.0843 | 13.02447136 | 4.14E-08 | 0.422656 | 0.151942 | 7.10156 | 1.526009258 | 0.007701760334 | 5.26995 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42023 | 504 | 0.390582 | 0.154759 | 5.89221 | 1.477840647 | 0.01520792633 | 26.93005054 | 0.007379859776 | 1.533874142 | 0.08649778746 | 1.367421926 | 0.2405304718 | 0.04492539366 | 28.7529602 | 0.006200657245 | 1.802461441 | 0.04741217224 | 1.531719426 | 0.19315933 | 0.06815172 |
81 | chr6:168047780:T:C | 6 | 168047780 | T | C | downstream gene variant | KIF25 | 0.901876 | 0.004609401258 | 42027 | 41462 | 372 | 6 | 0.0001434034417 | TOPMED | G62[Other polyneuropathies] | ICD10 | 466 | 0.00967754 | 0.00576307 | 5.04612 | 0.801641 | 29.7681 | 155.4182702 | 4.87E-08 | 0.905568 | 0.486969 | 3.45812 | 2.473336379 | 0.06294192194 | 6.11146 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42021 | 463 | -0.5005 | 0.509962 | 0.963236 | 0.6062274702 | 0.326372832 | 248.4056401 | 3.13E-10 | 1.66191936 | 0.187734427 | 0.2313958458 | 0.1454290458 | 0.0001203803807 | 462.0961061 | 2.11E-05 | 0.8305008357 | 0.7961257916 | 2.62E-06 | 0.95684995 | 0.94661218 |
82 | chr6:170033874:C:T | 6 | 170033874 | C | T | intergenic variant | . | 0.770507 | 0.01573131986 | 42027 | 38260 | 1209 | 7 | 0.0001773229304 | TOPMED | M72[Fibroblastic disorders] | ICD10 | 4794 | 0.0345031 | 0.0319159 | 1.8708 | 0.321188 | 30.0484 | 6.493489113 | 4.21E-08 | 0.148455 | 0.071152 | 4.24489 | 1.160040595 | 0.03936860263 | 5.97045 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42020 | 4790 | 0.121905 | 0.0745287 | 2.67543 | 1.12964678 | 0.1019077 | 19.79354632 | 0.001640301409 | 1.075181396 | 0.4276695013 | 1.018558384 | 0.845024909 | 0.002260751227 | 18.70344574 | 0.00540902622 | 1.072384414 | 0.5316020685 | 1.008650898 | 0.94051239 | 0.00684122 |
83 | chr7:27293317:C:T | 7 | 27293317 | C | T | intergenic variant | . | 0.948078 | 0.7434973119 | 23710 | 4127 | 10205 | 6860 | 0.3237070593 | TOPMED | N92[Excessive, frequent and irregular menstruation] | ICD10 | 5310 | 0.544259 | 0.570748 | -0.190945 | 0.034494 | 30.9681 | 0.8261780267 | 2.62E-08 | -0.108315 | 0.0234598 | 21.2663 | 0.8973448883 | 4.00E-06 | 2.18293 | N14_MESNRUIRREG | 0.993234172 | 0.609458 | chr7:27308325:T:C | 0.725004 | 0.8724455794 | 0.0004279568675 | yes | NA | NA | NA | 16850 | 3936 | -0.030084 | 0.0371635 | 0.655295 | 0.9703640195 | 0.4182259728 | 0.8286131138 | 2.63E-07 | 0.8988014596 | 6.07E-06 | 0.9863823846 | 0.7558794046 | 0.01075964645 | 0.7897862174 | 3.26E-07 | 0.8896066815 | 8.14E-05 | 1.043133133 | 0.45082977 | 0.00063798 |
84 | chr7:32513757:C:T | 7 | 32513757 | C | T | intron variant | AVL9 | 0.965208 | 0.5678336798 | 42027 | 12992 | 19245 | 7448 | 0.187677964 | TOPMED | E05[Thyrotoxicosis [hyperthyroidism]] | ICD10 | 455 | 0.486591 | 0.427873 | 0.594304 | 0.102137 | 30.1287 | 1.811769514 | 4.04E-08 | 0.258247 | 0.0674231 | 14.3168 | 1.29465856 | 0.0001544827529 | 3.58217 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 34579 | 336 | 0.0158195 | 0.111848 | 0.0200045 | 1.015945291 | 0.8875246011 | 1.670808421 | 2.53E-06 | 1.21865103 | 0.003966743992 | 0.8555445486 | 0.1765036507 | 0.0001982760857 | 1.920197222 | 3.89E-06 | 1.33816728 | 0.001514086829 | 0.8822746663 | 0.42787247 | 0.00167115 |
85 | chr7:48916122:T:C | 7 | 48916122 | T | C | intergenic variant | . | 0.869719 | 0.01587223406 | 42027 | 39961 | 1263 | 13 | 0.0003152508669 | TOPMED | J34[Other disorders of nose and nasal sinuses] | ICD10 | 4790 | 0.0238137 | 0.0200493 | 2.55631 | 0.427567 | 34.199 | 12.88817211 | 4.98E-09 | 0.196334 | 0.0777095 | 6.12471 | 1.216933293 | 0.0133306093 | 6.42803 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42014 | 4784 | 0.146019 | 0.0839953 | 3.0221 | 1.157218175 | 0.08213722005 | 7.808197407 | 0.0002378516692 | 1.180024811 | 0.04708044561 | 1.109065026 | 0.2338923 | 0.001544317331 | 14.43397361 | 3.84E-05 | 1.172133614 | 0.1382550676 | 1.042378405 | 0.71720743 | 0.00016379 |
86 | chr7:77206901:G:A | 7 | 77206901 | G | A | intron variant | CCDC146 | 0.98785 | 0.002805802639 | 42027 | 41760 | 225 | 5 | 0.0001190759705 | TOPMED | K44[Diaphragmatic hernia] | ICD10 | 1613 | 0.00636009 | 0.002845 | 5.85405 | 1.75413 | 29.8558 | 348.6435313 | 4.65E-08 | 0.767311 | 0.238474 | 8.70888 | 2.153966444 | 0.003166649527 | 4.83278 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42022 | 1608 | 0.0746634 | 0.34629 | 0.0464873 | 1.077521396 | 0.829292428 | 7298746.833 | 0.9089896114 | 1.87625793 | 0.009218478181 | 0.9174505983 | 0.8054407831 | 0.9080041716 | 11892705.23 | 0.9287772404 | 1.767358737 | 0.08765059763 | 0.689566049 | 0.47386998 | 0.925543 |
87 | chr7:117592588:A:G | 7 | 117592588 | A | G | missense variant | CFTR | 1.02213 | 0.005153468129 | 42027 | 41601 | 419 | 6 | 0.0001427687622 | WES5K | I07[Rheumatic tricuspid valve diseases] | ICD10 | 178 | 0.0168596 | 0.00507885 | 6.35659 | 1.02648 | 30.9305 | 576.2778945 | 2.67E-08 | 1.23691 | 0.397751 | 6.80422 | 3.444952099 | 0.009094315151 | 5.53155 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42021 | 175 | -1.04521 | 0.7573 | 1.90488 | 0.3516179719 | 0.1675336305 | 596.2770626 | 2.39E-12 | 3.50765581 | 0.002307621703 | 2.43E-06 | 0.9653668248 | 0.95684797 | 330.6059962 | 1.05E-08 | 3.215428381 | 0.02052424385 | 2.33E-06 | 0.97090659 | 0.9644299 |
88 | chr7:123155315:CT:C | 7 | 123155315 | CT | C | intron variant | SLC13A1 | 0.901883 | 0.002126693589 | 42027 | 41760 | 172 | 3 | 7.15E-05 | TOPMED | N10[Acute tubulo-interstitial nephritis] | ICD10 | 713 | 0.00639662 | 0.00259184 | 6.82147 | 1.21192 | 33.0272 | 917.3324982 | 9.09E-09 | 1.17999 | 0.359513 | 8.044 | 3.254341659 | 0.004565517376 | 5.70104 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42024 | 711 | 0.530683 | 0.593063 | 0.800698 | 1.700093076 | 0.3708847701 | 311.3703546 | 2.11E-05 | 2.380748345 | 0.02402088033 | 1.025556524 | 0.9657277066 | 0.0014548017 | 315.4693885 | 1.24E-05 | 2.727064666 | 0.02573583134 | 0.5537018268 | 0.55787805 | 0.00396783 |
89 | chr7:131773247:A:G | 7 | 131773247 | A | G | regulatory region variant | . | 1.01434 | 0.1270259185 | 42027 | 32991 | 8375 | 613 | 0.01460253936 | WES5K | F41[Other anxiety disorders] | ICD10 | 6875 | 0.125037 | 0.112566 | 0.57097 | 0.0972671 | 31.6766 | 1.769983103 | 1.82E-08 | 0.116782 | 0.0291674 | 15.7497 | 1.123874398 | 7.23E-05 | 3.5988 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 41414 | 6721 | 0.0464214 | 0.0342073 | 1.84162 | 1.047515741 | 0.1747615951 | 1.697114281 | 2.49E-08 | 1.119731867 | 7.11E-05 | 1.049665703 | 0.1435833606 | 7.71E-05 | 1.549071249 | 0.000294141606 | 1.094002346 | 0.0128652434 | 1.03549684 | 0.40679387 | 0.00849286 |
90 | chr7:131780486:G:A | 7 | 131780486 | G | A | intergenic variant | . | 0.863638 | 0.08004747843 | 42027 | 31777 | 5198 | 166 | 0.004469454242 | TOPMED | F41[Other anxiety disorders] | ICD10 | 6875 | 0.119451 | 0.107586 | 0.634972 | 0.0986386 | 37.8372 | 1.886969306 | 7.69E-10 | 0.135612 | 0.0322034 | 17.4066 | 1.145237455 | 3.02E-05 | 4.59376 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 41861 | 6830 | 0.110529 | 0.0336833 | 10.6175 | 1.116868738 | 0.001120211431 | 1.935758493 | 0.0001839096941 | 1.09227685 | 0.01882319991 | 1.046924278 | 0.2571765898 | 0.002718609814 | 1.348446555 | 0.2214231191 | 1.056468838 | 0.2514278406 | 1.040596979 | 0.43669622 | 0.39162468 |
91 | chr7:131782270:G:A | 7 | 131782270 | G | A | intergenic variant | . | 0.839732 | 0.07753651575 | 44186 | 32967 | 5222 | 160 | 0.00417220788 | TOPMED | Anxiety_and_phobia | CUSTOM | 7216 | 0.120606 | 0.109042 | 0.567959 | 0.0988703 | 30.4095 | 1.764661699 | 3.50E-08 | 0.137117 | 0.0318103 | 18.2417 | 1.146962335 | 1.95E-05 | 2.74526 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 44026 | 7173 | 0.114831 | 0.0331547 | 11.8252 | 1.121683857 | 0.0005843593536 | 1.908406305 | 0.0003573793599 | 1.093604927 | 0.01729412868 | 1.051681764 | 0.2118524494 | 0.004815433495 | 1.394403542 | 0.176880003 | 1.081777911 | 0.09874622153 | 1.066793852 | 0.20306771 | 0.42146624 |
92 | chr7:138844895:A:T | 7 | 138844895 | A | T | intron variant | KIAA1549 | 0.820614 | 0.7754770258 | 42027 | 3936 | 12797 | 7196 | 0.3007229721 | TOPMED | I63[Cerebral infarction] | ICD10 | 404 | 0.723541 | 0.646094 | 0.566109 | 0.102539 | 29.9388 | 1.761400093 | 4.46E-08 | 0.481615 | 0.089284 | 29.6014 | 1.618686471 | 5.31E-08 | 0.07558 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 34831 | 305 | 0.412749 | 0.104569 | 15.598 | 1.510965726 | 7.83E-05 | 1.948988774 | 1.55E-06 | 1.604940342 | 1.11E-05 | 1.104612854 | 0.6596326842 | 0.1010026787 | 2.419865836 | 4.82E-06 | 1.927937159 | 2.36E-05 | 1.254930966 | 0.51063673 | 0.17169132 |
93 | chr7:157970755:T:G | 7 | 157970755 | T | G | intron variant | PTPRN2 | 0.675846 | 0.005259966089 | 42027 | 40187 | 419 | 3 | 7.39E-05 | TOPMED | L20[Atopic dermatitis] | ICD10 | 5130 | 0.0155718 | 0.012742 | 4.15619 | 0.954764 | 32.6821 | 63.82787454 | 1.09E-08 | 0.269804 | 0.106235 | 6.14901 | 1.309707723 | 0.01314861472 | 6.08333 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42024 | 5127 | 0.22092 | 0.11536 | 3.66739 | 1.247223649 | 0.05548684099 | 398950.748 | 0.8494909302 | 1.461596604 | 0.003335896955 | 1.3417411 | 0.02920352708 | 0.8562506893 | 1054241.808 | 0.9192485433 | 1.362397837 | 0.07282267529 | 1.22745257 | 0.25927849 | 0.92161764 |
94 | chr7:158171977:G:A | 7 | 158171977 | G | A | intron variant | PTPRN2 | 0.932268 | 0.005189438532 | 42027 | 41407 | 422 | 5 | 0.0001195200076 | TOPMED | M41[Scoliosis] | ICD10 | 170 | 0.0236793 | 0.00639062 | 6.20988 | 0.925355 | 30.3432 | 497.6415307 | 3.62E-08 | 1.26855 | 0.388872 | 7.86214 | 3.555693068 | 0.005048123835 | 5.14446 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42022 | 167 | 0.0709579 | 0.745544 | 0.00905848 | 1.073536029 | 0.9241749656 | 348.8470441 | 4.41E-10 | 3.557210637 | 0.001612224492 | 2.38E-06 | 0.9669610246 | 0.95949948 | 92.70094256 | 0.0003547955216 | 2.128226284 | 0.2755574627 | 2.71E-06 | 0.97383854 | 0.96921168 |
95 | chr7:158171977:G:A | 7 | 158171977 | G | A | intron variant | PTPRN2 | 0.933809 | 0.005129728433 | 44186 | 43540 | 437 | 6 | 0.0001364163427 | TOPMED | Scoliosis | CUSTOM | 177 | 0.0247035 | 0.00632536 | 5.96546 | 0.962355 | 29.8267 | 389.7322637 | 4.72E-08 | 1.28211 | 0.357549 | 9.53663 | 3.604236647 | 0.002014095226 | 4.62972 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 44180 | 174 | 0.330472 | 0.71395 | 0.214256 | 1.39162482 | 0.6434517702 | 262.0565628 | 6.38E-11 | 3.856894897 | 0.0002875241702 | 0.5934906457 | 0.6034002459 | 0.002388868061 | 76.17675198 | 0.0004024653868 | 1.91056355 | 0.3503670086 | 2.52E-06 | 0.97317356 | 0.96866427 |
96 | chr8:3932209:A:G | 8 | 3932209 | A | G | intron variant | CSMD1 | 0.603891 | 0.429791925 | 42027 | 6207 | 7741 | 808 | 0.05475738683 | TOPMED | N28[Other disorders of kidney and ureter, not elsewhere classified] | ICD10 | 631 | 0.337299 | 0.364301 | -0.952106 | 0.195328 | 29.7642 | 0.3859274039 | 4.88E-08 | -0.213089 | 0.0791988 | 7.29092 | 0.8080842145 | 0.006930427106 | 5.15241 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 41219 | 629 | -0.151209 | 0.0822418 | 3.3804 | 0.8596680093 | 0.06597661047 | 0.1438787997 | 0.006541903585 | 0.7109746163 | 0.00372859546 | 0.8341270332 | 0.1725880642 | 0.02353809414 | 0.1349547709 | 0.04642564273 | 0.8019528406 | 0.1561769387 | 0.9706984455 | 0.86765382 | 0.05903777 |
97 | chr8:14479423:T:C | 8 | 14479423 | T | C | intron variant | SGCZ | 0.960754 | 0.05245710815 | 42027 | 37445 | 3896 | 125 | 0.003014517918 | TOPMED | L50[Urticaria] | ICD10 | 3203 | 0.0607623 | 0.0525565 | 1.29131 | 0.209873 | 30.2122 | 3.637548625 | 3.87E-08 | 0.136959 | 0.0567647 | 5.64079 | 1.14678113 | 0.01754728783 | 5.6562 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 41902 | 3176 | 0.0296903 | 0.0631936 | 0.220742 | 1.030135452 | 0.6384751517 | 3.523228511 | 1.51E-08 | 1.122911864 | 0.04383940108 | 0.9998102777 | 0.9976260195 | 6.82E-07 | 4.122654882 | 2.08E-06 | 1.037956783 | 0.6334199675 | 0.9038193419 | 0.24172242 | 2.46E-06 |
98 | chr8:103355120:G:A | 8 | 103355120 | G | A | intergenic variant | . | 0.977406 | 0.8083214205 | 44186 | 6369 | 19945 | 16886 | 0.3908796296 | TOPMED | Folate_deficiency_with_and_without_anaemia | CUSTOM | 2492 | 0.585389 | 0.616436 | -0.241958 | 0.0442432 | 30.2579 | 0.7850891506 | 3.78E-08 | -0.157906 | 0.0309223 | 25.7317 | 0.8539300476 | 3.92E-07 | 1.01587 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.7938619972 | 1.77E-07 | 0.8727263552 | 6.39E-06 | 1.002366164 | 0.969199526 | 0.005954980456 | 0.8087396815 | 0.0001794856181 | 0.8791620362 | 0.0008485567589 | 0.9852543915 | 0.8487446 | 0.07200089 |
99 | chr8:115346553:C:A | 8 | 115346553 | C | A | intergenic variant | . | 0.673816 | 0.02301642854 | 42027 | 35592 | 1609 | 34 | 0.0009131193769 | TOPMED | N10[Acute tubulo-interstitial nephritis] | ICD10 | 713 | 0.0638996 | 0.0465027 | 2.63775 | 0.381494 | 31.4021 | 13.98170934 | 2.10E-08 | 0.474303 | 0.131934 | 11.5759 | 1.606893802 | 0.0006681131196 | 4.50315 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 41993 | 709 | 0.370691 | 0.141011 | 6.36903 | 1.448735345 | 0.01161288165 | 12.30713759 | 6.82E-06 | 1.483840206 | 0.01459893218 | 1.230645133 | 0.2547465717 | 0.001444561031 | 15.77283064 | 2.47E-05 | 1.703776645 | 0.007559784853 | 1.372871763 | 0.16664435 | 0.00673739 |
100 | chr8:131156394:T:C | 8 | 131156394 | T | C | intergenic variant | . | 0.814637 | 0.002119887418 | 42027 | 41659 | 171 | 3 | 7.17E-05 | TOPMED | H26[Other cataract] | ICD10 | 1989 | 0.00419737 | 0.00313216 | 11.6992 | 2.24839 | 35.741 | 120475.2962 | 2.25E-09 | 0.572729 | 0.385446 | 2.20786 | 1.773099243 | 0.1373089987 | 7.784809 | NA | NA | NA | NA | NA | NA | NA | not | NA | NA | NA | 42024 | 1986 | -0.221927 | 0.415808 | 0.284861 | 0.8009738333 | 0.5935331771 | 3344686940 | 0.8798767453 | 1.549992434 | 0.2002049663 | 0.7276126626 | 0.4706408624 | 0.8764021246 | 12773261918 | 0.921415498 | 2.721451259 | 0.01526029276 | 1.010603703 | 0.98423068 | 0.92148807 |