chrom stringclasses 12
values | pos int64 36.1k 249M | ref stringclasses 4
values | alt stringclasses 4
values | label bool 2
classes | subset stringclasses 8
values | match_group int64 0 2.16k | rsid stringlengths 3 15 | pip float64 0 1 | traits stringclasses 279
values | MAF float64 0 0.5 | ld_score float64 1.01 3.79k | consequence stringclasses 13
values | consequence_cre stringclasses 29
values | exon_closest_pc_gene_id stringlengths 15 15 | distance_exon_pc int64 0 1.68M | exon_closest_nc_gene_id stringlengths 15 15 | distance_exon_nc int64 0 507k | distance_exon int64 0 507k | exon_closest_gene_id stringlengths 15 15 | consequence_final stringclasses 28
values | tss_closest_pc_gene_id stringlengths 15 15 | distance_tss_pc int64 0 1.69M | tss_closest_nc_gene_id stringlengths 15 15 | distance_tss_nc int64 0 531k | distance_tss int64 0 531k | tss_closest_gene_id stringlengths 15 15 | consequence_group stringclasses 8
values | distance_tss_pc_bin stringclasses 4
values | distance_exon_pc_bin stringclasses 7
values |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
17 | 78,369,710 | T | C | true | distal | 842 | rs4969172 | 0.998105 | CRP | 0.33759 | 91.849 | intron_variant | pELS | ENSG00000087157 | 8,938 | ENSG00000266970 | 816 | 816 | ENSG00000266970 | pELS | ENSG00000087157 | 8,938 | ENSG00000243870 | 1,424 | 1,424 | ENSG00000243870 | distal | NA | NA |
17 | 78,460,839 | A | G | false | distal | 933 | rs74531260 | 0.000053 | 0.003458 | 5.7977 | intron_variant | TF_flank | ENSG00000187775 | 581 | ENSG00000187775 | 581 | 581 | ENSG00000187775 | TF_flank | ENSG00000087157 | 56,874 | ENSG00000187775 | 1,950 | 1,950 | ENSG00000187775 | distal | NA | NA | |
17 | 78,461,078 | C | A | true | distal | 933 | rs78306333 | 1 | BW | 0.004423 | 7.8955 | intron_variant | TF_flank | ENSG00000187775 | 465 | ENSG00000187775 | 465 | 465 | ENSG00000187775 | TF_flank | ENSG00000087157 | 57,113 | ENSG00000187775 | 2,189 | 2,189 | ENSG00000187775 | distal | NA | NA |
17 | 78,466,239 | C | T | false | distal | 873 | rs375161549 | 0.000118 | 0.017529 | 19.84 | intron_variant | dELS | ENSG00000187775 | 415 | ENSG00000187775 | 415 | 415 | ENSG00000187775 | dELS | ENSG00000087157 | 62,274 | ENSG00000187775 | 6,534 | 6,534 | ENSG00000187775 | distal | NA | NA | |
17 | 78,466,389 | G | A | false | distal | 873 | rs533993509 | 0.000081 | 0.018502 | 9.5598 | intron_variant | dELS | ENSG00000187775 | 265 | ENSG00000187775 | 265 | 265 | ENSG00000187775 | dELS | ENSG00000087157 | 62,424 | ENSG00000187775 | 6,384 | 6,384 | ENSG00000187775 | distal | NA | NA | |
17 | 78,467,597 | C | T | false | distal | 933 | rs571727425 | 0.000043 | 0.001937 | 5.3132 | intron_variant | TF_flank | ENSG00000187775 | 780 | ENSG00000187775 | 780 | 780 | ENSG00000187775 | TF_flank | ENSG00000087157 | 63,632 | ENSG00000187775 | 5,176 | 5,176 | ENSG00000187775 | distal | NA | NA | |
17 | 78,476,087 | C | T | false | distal | 853 | rs692688 | 0.000141 | 0.19323 | 43.15 | intron_variant | dELS_flank | ENSG00000187775 | 253 | ENSG00000187775 | 227 | 227 | ENSG00000187775 | dELS_flank | ENSG00000087157 | 72,122 | ENSG00000187775 | 3,312 | 3,312 | ENSG00000187775 | distal | NA | NA | |
17 | 78,476,091 | C | T | false | distal | 853 | rs692687 | 0.000143 | 0.19323 | 43.149 | intron_variant | dELS_flank | ENSG00000187775 | 257 | ENSG00000187775 | 231 | 231 | ENSG00000187775 | dELS_flank | ENSG00000087157 | 72,126 | ENSG00000187775 | 3,316 | 3,316 | ENSG00000187775 | distal | NA | NA | |
17 | 78,476,773 | C | T | false | distal | 853 | rs4969207 | 0.000157 | 0.19322 | 42.969 | intron_variant | dELS_flank | ENSG00000187775 | 39 | ENSG00000187775 | 913 | 39 | ENSG00000187775 | dELS_flank | ENSG00000087157 | 72,808 | ENSG00000187775 | 3,998 | 3,998 | ENSG00000187775 | distal | NA | NA | |
17 | 78,506,099 | C | T | false | distal | 853 | rs12949098 | 0.000067 | 0.17548 | 41.492 | intron_variant | dELS_flank | ENSG00000187775 | 620 | ENSG00000187775 | 620 | 620 | ENSG00000187775 | dELS_flank | ENSG00000187775 | 71,296 | ENSG00000187775 | 4,571 | 4,571 | ENSG00000187775 | distal | NA | NA | |
17 | 78,506,533 | C | T | false | distal | 853 | rs6501225 | 0.000061 | 0.17739 | 41.662 | intron_variant | dELS_flank | ENSG00000187775 | 186 | ENSG00000187775 | 186 | 186 | ENSG00000187775 | dELS_flank | ENSG00000187775 | 70,862 | ENSG00000187775 | 4,137 | 4,137 | ENSG00000187775 | distal | NA | NA | |
17 | 78,722,760 | C | T | false | tss_proximal | 904 | rs1552173 | 0.005242 | 0.46499 | 146 | intron_variant | pELS_flank | ENSG00000108669 | 452 | ENSG00000108669 | 452 | 452 | ENSG00000108669 | tss_proximal | ENSG00000108669 | 803 | ENSG00000108669 | 805 | 803 | ENSG00000108669 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 78,797,510 | C | A | false | 3_prime_UTR_variant | 913 | rs113586045 | 0.00245 | 0.014051 | 18.462 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000055483 | 0 | ENSG00000055483 | 0 | 0 | ENSG00000055483 | 3_prime_UTR_variant | ENSG00000055483 | 2,211 | ENSG00000055483 | 448 | 448 | ENSG00000055483 | 3_prime_UTR_variant | NA | NA | |
17 | 78,835,437 | G | T | false | missense_variant | 823 | rs34398293 | 0.000582 | 0.014142 | 18.805 | missense_variant | missense_variant | ENSG00000055483 | 0 | ENSG00000055483 | 0 | 0 | ENSG00000055483 | missense_variant | ENSG00000055483 | 3,356 | ENSG00000055483 | 5,328 | 3,356 | ENSG00000055483 | missense_variant | NA | NA | |
17 | 78,840,446 | A | G | false | 5_prime_UTR_variant | 892 | rs4796820 | 0.000507 | 0.24045 | 69.153 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000055483 | 0 | ENSG00000055483 | 289 | 0 | ENSG00000055483 | 5_prime_UTR_variant | ENSG00000055483 | 200 | ENSG00000055483 | 319 | 200 | ENSG00000055483 | 5_prime_UTR_variant | NA | NA | |
17 | 78,899,349 | A | C | false | non_coding_transcript_exon_variant | 863 | rs9890542 | 0.000119 | 0.49847 | 86.496 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000178404 | 1,619 | ENSG00000279339 | 0 | 0 | ENSG00000279339 | non_coding_transcript_exon_variant | ENSG00000178404 | 2,478 | ENSG00000279339 | 2,084 | 2,084 | ENSG00000279339 | non_coding_transcript_exon_variant | NA | NA | |
17 | 78,901,337 | C | T | false | tss_proximal | 866 | rs148627033 | 0.0002 | 0.003651 | 5.8023 | intron_variant | pELS_flank | ENSG00000178404 | 79 | ENSG00000178404 | 447 | 79 | ENSG00000178404 | tss_proximal | ENSG00000178404 | 490 | ENSG00000178404 | 1,861 | 490 | ENSG00000178404 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 78,977,167 | C | T | false | missense_variant | 835 | rs55974249 | 0.000449 | 0.031734 | 11.925 | missense_variant | missense_variant | ENSG00000108679 | 0 | ENSG00000108679 | 0 | 0 | ENSG00000108679 | missense_variant | ENSG00000108679 | 155 | ENSG00000108679 | 48 | 48 | ENSG00000108679 | missense_variant | NA | NA | |
17 | 79,037,010 | A | G | false | distal | 846 | rs11870326 | 0.001237 | 0.10794 | 84.756 | intron_variant | dELS_flank | ENSG00000173918 | 2,476 | ENSG00000265096 | 9,336 | 2,476 | ENSG00000173918 | dELS_flank | ENSG00000173918 | 2,824 | ENSG00000265096 | 9,336 | 2,824 | ENSG00000173918 | distal | NA | NA | |
17 | 79,037,122 | T | A | false | distal | 846 | rs11868044 | 0.001175 | 0.10774 | 84.636 | intron_variant | dELS_flank | ENSG00000173918 | 2,588 | ENSG00000265096 | 9,448 | 2,588 | ENSG00000173918 | dELS_flank | ENSG00000173918 | 2,936 | ENSG00000265096 | 9,448 | 2,936 | ENSG00000173918 | distal | NA | NA | |
17 | 79,040,346 | T | C | false | distal | 844 | rs184100802 | 0.001097 | 0.004372 | 6.6137 | intron_variant | pELS_flank | ENSG00000173918 | 1,379 | ENSG00000173918 | 6,554 | 1,379 | ENSG00000173918 | pELS_flank | ENSG00000173918 | 1,379 | ENSG00000173918 | 6,554 | 1,379 | ENSG00000173918 | distal | NA | NA | |
17 | 79,074,920 | C | G | false | 5_prime_UTR_variant | 888 | rs8076010 | 0.000074 | 0.25512 | 80.542 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000167280 | 0 | ENSG00000167280 | 0 | 0 | ENSG00000167280 | 5_prime_UTR_variant | ENSG00000167280 | 95 | ENSG00000167280 | 95 | 95 | ENSG00000167280 | 5_prime_UTR_variant | NA | NA | |
17 | 79,079,585 | T | C | false | synonymous_variant | 895 | rs3744183 | 0.000104 | 0.19156 | 71.416 | synonymous_variant | synonymous_variant | ENSG00000167280 | 0 | ENSG00000167280 | 621 | 0 | ENSG00000167280 | synonymous_variant | ENSG00000167280 | 4,760 | ENSG00000167280 | 726 | 726 | ENSG00000167280 | synonymous_variant | NA | NA | |
17 | 79,079,591 | A | G | false | synonymous_variant | 895 | rs3744185 | 0.000103 | 0.19196 | 71.567 | synonymous_variant | synonymous_variant | ENSG00000167280 | 0 | ENSG00000167280 | 615 | 0 | ENSG00000167280 | synonymous_variant | ENSG00000167280 | 4,766 | ENSG00000167280 | 720 | 720 | ENSG00000167280 | synonymous_variant | NA | NA | |
17 | 79,094,420 | A | T | false | missense_variant | 823 | rs144391445 | 0.000085 | 0.007609 | 22.09 | missense_variant | missense_variant | ENSG00000167281 | 0 | ENSG00000167281 | 30 | 0 | ENSG00000167281 | missense_variant | ENSG00000167281 | 2,272 | ENSG00000167281 | 4,087 | 2,272 | ENSG00000167281 | missense_variant | NA | NA | |
17 | 79,131,040 | C | G | false | distal | 841 | rs12951237 | 0.000066 | 0.38151 | 52.292 | intron_variant | pELS | ENSG00000167281 | 15,291 | ENSG00000266711 | 1,681 | 1,681 | ENSG00000266711 | pELS | ENSG00000167281 | 15,459 | ENSG00000266711 | 1,681 | 1,681 | ENSG00000266711 | distal | NA | NA | |
17 | 79,263,165 | C | T | false | distal | 855 | rs565502684 | 0.000691 | 0.006814 | 4.5629 | intron_variant | dELS_flank | ENSG00000167281 | 27,359 | ENSG00000167281 | 27,359 | 27,359 | ENSG00000167281 | dELS_flank | ENSG00000167281 | 27,359 | ENSG00000167281 | 44,661 | 27,359 | ENSG00000167281 | distal | NA | NA | |
17 | 79,263,170 | C | T | false | distal | 855 | rs527866900 | 0.000069 | 0.002025 | 2.8122 | intron_variant | dELS_flank | ENSG00000167281 | 27,364 | ENSG00000167281 | 27,364 | 27,364 | ENSG00000167281 | dELS_flank | ENSG00000167281 | 27,364 | ENSG00000167281 | 44,656 | 27,364 | ENSG00000167281 | distal | NA | NA | |
17 | 79,263,654 | C | G | false | distal | 855 | rs549726392 | 0.000032 | 0.00279 | 3.9575 | intron_variant | dELS_flank | ENSG00000167281 | 27,848 | ENSG00000167281 | 27,848 | 27,848 | ENSG00000167281 | dELS_flank | ENSG00000167281 | 27,848 | ENSG00000167281 | 44,172 | 27,848 | ENSG00000167281 | distal | NA | NA | |
17 | 79,263,695 | C | T | false | distal | 855 | rs75355325 | 0.000232 | 0.017296 | 8.8757 | intron_variant | dELS_flank | ENSG00000167281 | 27,889 | ENSG00000167281 | 27,889 | 27,889 | ENSG00000167281 | dELS_flank | ENSG00000167281 | 27,889 | ENSG00000167281 | 44,131 | 27,889 | ENSG00000167281 | distal | NA | NA | |
17 | 79,263,760 | C | T | false | distal | 855 | rs34942623 | 0.000448 | 0.005788 | 4.8235 | intron_variant | dELS_flank | ENSG00000167281 | 27,954 | ENSG00000167281 | 27,954 | 27,954 | ENSG00000167281 | dELS_flank | ENSG00000167281 | 27,954 | ENSG00000167281 | 44,066 | 27,954 | ENSG00000167281 | distal | NA | NA | |
17 | 79,263,766 | C | T | false | distal | 855 | rs558764192 | 0.000222 | 0.001615 | 1.9841 | intron_variant | dELS_flank | ENSG00000167281 | 27,960 | ENSG00000167281 | 27,960 | 27,960 | ENSG00000167281 | dELS_flank | ENSG00000167281 | 27,960 | ENSG00000167281 | 44,060 | 27,960 | ENSG00000167281 | distal | NA | NA | |
17 | 79,306,503 | C | G | false | distal | 853 | rs883890 | 0.0001 | 0.18422 | 20.253 | intron_variant | dELS_flank | ENSG00000167281 | 1,220 | ENSG00000167281 | 1,220 | 1,220 | ENSG00000167281 | dELS_flank | ENSG00000167281 | 70,697 | ENSG00000167281 | 1,323 | 1,323 | ENSG00000167281 | distal | NA | NA | |
17 | 79,794,556 | A | C | false | 3_prime_UTR_variant | 912 | rs151119888 | 0.000227 | 0.014291 | 7.666 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000141570 | 0 | ENSG00000141570 | 837 | 0 | ENSG00000141570 | 3_prime_UTR_variant | ENSG00000141570 | 2,520 | ENSG00000262768 | 6,041 | 2,520 | ENSG00000141570 | 3_prime_UTR_variant | NA | NA | |
17 | 79,920,407 | A | G | false | distal | 841 | rs1078485 | 0.000118 | 0.41493 | 31.032 | intron_variant | pELS | ENSG00000167291 | 11,935 | ENSG00000262585 | 570 | 570 | ENSG00000262585 | pELS | ENSG00000167291 | 30,420 | ENSG00000262188 | 1,032 | 1,032 | ENSG00000262188 | distal | NA | NA | |
17 | 79,943,599 | T | C | false | distal | 846 | rs77508184 | 0.000175 | 0.11125 | 18.522 | intron_variant | dELS_flank | ENSG00000167291 | 256 | ENSG00000275516 | 9,063 | 256 | ENSG00000167291 | dELS_flank | ENSG00000167291 | 7,228 | ENSG00000275516 | 9,063 | 7,228 | ENSG00000167291 | distal | NA | NA | |
17 | 80,036,614 | C | A | false | tss_proximal | 930 | rs3752042 | 0.001879 | 0.122 | 74.418 | upstream_gene_variant | PLS | ENSG00000141519 | 17 | ENSG00000141519 | 37 | 17 | ENSG00000141519 | tss_proximal | ENSG00000141519 | 17 | ENSG00000141519 | 37 | 17 | ENSG00000141519 | tss_proximal | tss_prox:b0 | tss_prox:b0 | |
17 | 80,086,022 | T | C | false | missense_variant | 833 | rs117203086 | 0.000053 | 0.025321 | 24.608 | missense_variant | missense_variant | ENSG00000141519 | 0 | ENSG00000141519 | 0 | 0 | ENSG00000141519 | missense_variant | ENSG00000171298 | 15,533 | ENSG00000141519 | 1,491 | 1,491 | ENSG00000141519 | missense_variant | NA | NA | |
17 | 80,090,265 | G | A | false | missense_variant | 828 | rs7207166 | 0.00219 | 0.25352 | 163.01 | missense_variant | missense_variant | ENSG00000141519 | 0 | ENSG00000141519 | 380 | 0 | ENSG00000141519 | missense_variant | ENSG00000171298 | 11,290 | ENSG00000141519 | 2,159 | 2,159 | ENSG00000141519 | missense_variant | NA | NA | |
17 | 80,099,961 | A | C | false | 3_prime_UTR_variant | 915 | rs2304851 | 0.000381 | 0.33897 | 104.02 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000141519 | 0 | ENSG00000141519 | 0 | 0 | ENSG00000141519 | 3_prime_UTR_variant | ENSG00000171298 | 1,594 | ENSG00000265561 | 1,132 | 1,132 | ENSG00000265561 | 3_prime_UTR_variant | NA | NA | |
17 | 80,101,663 | G | C | false | 5_prime_UTR_variant | 892 | rs2304849 | 0.00099 | 0.24787 | 92.351 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000171298 | 0 | ENSG00000171298 | 37 | 0 | ENSG00000171298 | 5_prime_UTR_variant | ENSG00000171298 | 68 | ENSG00000171298 | 65 | 65 | ENSG00000171298 | 5_prime_UTR_variant | NA | NA | |
17 | 80,105,798 | A | G | false | missense_variant | 826 | rs1042393 | 0.00098 | 0.27389 | 173.67 | missense_variant | missense_variant | ENSG00000171298 | 0 | ENSG00000171298 | 3,064 | 0 | ENSG00000171298 | missense_variant | ENSG00000171298 | 4,203 | ENSG00000171298 | 4,200 | 4,200 | ENSG00000171298 | missense_variant | NA | NA | |
17 | 80,105,870 | G | A | false | missense_variant | 826 | rs1042395 | 0.000965 | 0.27383 | 173.81 | missense_variant | missense_variant | ENSG00000171298 | 0 | ENSG00000171298 | 3,136 | 0 | ENSG00000171298 | missense_variant | ENSG00000171298 | 4,275 | ENSG00000171298 | 4,272 | 4,272 | ENSG00000171298 | missense_variant | NA | NA | |
17 | 80,107,862 | A | T | false | synonymous_variant | 894 | rs1800303 | 0.00005 | 0.060734 | 59.673 | synonymous_variant | synonymous_variant | ENSG00000171298 | 0 | ENSG00000171298 | 3,139 | 0 | ENSG00000171298 | synonymous_variant | ENSG00000171298 | 6,267 | ENSG00000171298 | 3,139 | 3,139 | ENSG00000171298 | synonymous_variant | NA | NA | |
17 | 80,116,915 | C | G | false | non_coding_transcript_exon_variant | 864 | rs190988996 | 0.000033 | 0.003756 | 35.559 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000171298 | 52 | ENSG00000171298 | 0 | 0 | ENSG00000171298 | non_coding_transcript_exon_variant | ENSG00000171298 | 15,320 | ENSG00000171298 | 88 | 88 | ENSG00000171298 | non_coding_transcript_exon_variant | NA | NA | |
17 | 80,117,606 | G | A | false | missense_variant | 811 | rs1126690 | 0.001677 | 0.25827 | 171.34 | missense_variant | missense_variant | ENSG00000171298 | 0 | ENSG00000171298 | 0 | 0 | ENSG00000171298 | missense_variant | ENSG00000171298 | 16,011 | ENSG00000171298 | 779 | 779 | ENSG00000171298 | missense_variant | NA | NA | |
17 | 80,117,714 | G | A | false | missense_variant | 810 | rs1800314 | 0.000081 | 0.014361 | 95.742 | missense_variant | missense_variant | ENSG00000171298 | 0 | ENSG00000171298 | 0 | 0 | ENSG00000171298 | missense_variant | ENSG00000171298 | 16,119 | ENSG00000171298 | 887 | 887 | ENSG00000171298 | missense_variant | NA | NA | |
17 | 80,148,622 | C | G | false | distal | 843 | rs34164398 | 0.000662 | 0.18995 | 88.231 | downstream_gene_variant | pELS_flank | ENSG00000141543 | 1,470 | ENSG00000279259 | 25 | 25 | ENSG00000279259 | pELS_flank | ENSG00000141543 | 1,470 | ENSG00000275479 | 1,004 | 1,004 | ENSG00000275479 | distal | NA | NA | |
17 | 80,159,345 | G | A | false | distal | 860 | rs74003641 | 0.000158 | 0.17785 | 83.647 | intergenic_variant | dELS_flank | ENSG00000141527 | 10,666 | ENSG00000275479 | 9,546 | 9,546 | ENSG00000275479 | dELS_flank | ENSG00000141527 | 10,666 | ENSG00000275479 | 9,717 | 9,717 | ENSG00000275479 | distal | NA | NA | |
17 | 80,163,373 | T | G | false | distal | 854 | rs1867037 | 0.002499 | 0.27716 | 165.78 | intergenic_variant | dELS_flank | ENSG00000141527 | 6,638 | ENSG00000141527 | 6,618 | 6,618 | ENSG00000141527 | dELS_flank | ENSG00000141527 | 6,638 | ENSG00000141527 | 6,618 | 6,618 | ENSG00000141527 | distal | NA | NA | |
17 | 80,170,310 | T | C | false | 5_prime_UTR_variant | 888 | rs12944619 | 0.001603 | 0.26692 | 164.12 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000141527 | 173 | ENSG00000141527 | 0 | 0 | ENSG00000141527 | 5_prime_UTR_variant | ENSG00000141527 | 254 | ENSG00000141527 | 32 | 32 | ENSG00000141527 | 5_prime_UTR_variant | NA | NA | |
17 | 80,187,603 | C | T | false | 3_prime_UTR_variant | 915 | rs3829612 | 0.000119 | 0.34709 | 66.433 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000141527 | 773 | ENSG00000141527 | 0 | 0 | ENSG00000141527 | 3_prime_UTR_variant | ENSG00000141527 | 9,094 | ENSG00000141527 | 196 | 196 | ENSG00000141527 | 3_prime_UTR_variant | NA | NA | |
17 | 80,210,802 | C | T | false | missense_variant | 832 | rs62620232 | 0.000246 | 0.008103 | 9.542 | missense_variant | missense_variant | ENSG00000181523 | 0 | ENSG00000181523 | 0 | 0 | ENSG00000181523 | missense_variant | ENSG00000181523 | 1,415 | ENSG00000181523 | 927 | 927 | ENSG00000181523 | missense_variant | NA | NA | |
17 | 80,214,335 | G | A | false | splicing | 909 | rs200965114 | 0.000245 | 0.000245 | 3.6252 | splice_polypyrimidine_tract_variant | splice_polypyrimidine_tract_variant | ENSG00000181523 | 6 | ENSG00000181523 | 6 | 6 | ENSG00000181523 | splice_polypyrimidine_tract_variant | ENSG00000181523 | 386 | ENSG00000181523 | 4,460 | 386 | ENSG00000181523 | splicing | NA | splicing:b1 | |
17 | 80,249,304 | C | A | false | splicing | 923 | rs8064518 | 0.000936 | 0.23477 | 51.173 | intron_variant | dELS | ENSG00000181045 | 16 | ENSG00000181045 | 3,930 | 16 | ENSG00000181045 | exon_proximal | ENSG00000181045 | 1,089 | ENSG00000181045 | 23,721 | 1,089 | ENSG00000181045 | splicing | NA | splicing:b1 | |
17 | 80,290,637 | A | G | false | missense_variant | 819 | rs74490096 | 0.000097 | 0.000016 | 5.8426 | missense_variant | missense_variant | ENSG00000173821 | 0 | ENSG00000173821 | 0 | 0 | ENSG00000173821 | missense_variant | ENSG00000173821 | 29,766 | ENSG00000173821 | 875 | 875 | ENSG00000173821 | missense_variant | NA | NA | |
17 | 80,306,230 | C | T | false | splicing | 922 | rs8066993 | 0.000709 | 0.25277 | 87.517 | intron_variant | intron_variant | ENSG00000173821 | 21 | ENSG00000173821 | 21 | 21 | ENSG00000173821 | exon_proximal | ENSG00000173821 | 45,359 | ENSG00000262979 | 9,420 | 9,420 | ENSG00000262979 | splicing | NA | splicing:b1 | |
17 | 80,340,083 | C | T | false | missense_variant | 819 | rs376888661 | 0.000065 | 0.000068 | 39.407 | missense_variant | missense_variant | ENSG00000173821 | 0 | ENSG00000280248 | 0 | 0 | ENSG00000173821 | missense_variant | ENSG00000173821 | 32,985 | ENSG00000280248 | 184 | 184 | ENSG00000280248 | missense_variant | NA | NA | |
17 | 80,389,254 | G | A | false | missense_variant | 818 | rs8072774 | 0.005256 | 0.10353 | 63.918 | missense_variant | missense_variant | ENSG00000173821 | 0 | ENSG00000173821 | 0 | 0 | ENSG00000173821 | missense_variant | ENSG00000173821 | 16,184 | ENSG00000173821 | 723 | 723 | ENSG00000173821 | missense_variant | NA | NA | |
17 | 80,408,164 | C | T | false | distal | 875 | rs9894173 | 0.000085 | 0.42406 | 113.51 | intron_variant | dELS | ENSG00000173818 | 7,002 | ENSG00000263069 | 6,764 | 6,764 | ENSG00000263069 | dELS | ENSG00000173818 | 7,002 | ENSG00000263069 | 6,952 | 6,952 | ENSG00000263069 | distal | NA | NA | |
17 | 80,424,046 | G | C | false | missense_variant | 828 | rs6565688 | 0.000224 | 0.2503 | 81.101 | missense_variant | missense_variant | ENSG00000173818 | 0 | ENSG00000173818 | 229 | 0 | ENSG00000173818 | missense_variant | ENSG00000173818 | 480 | ENSG00000264961 | 4,627 | 480 | ENSG00000173818 | missense_variant | NA | NA | |
17 | 80,476,148 | C | T | true | missense_variant | 837 | rs144443274 | 0.92112 | Irritability | 0.17505 | 87.631 | missense_variant | missense_variant | ENSG00000171246 | 0 | ENSG00000171246 | 429 | 0 | ENSG00000171246 | missense_variant | ENSG00000171246 | 335 | ENSG00000290024 | 1,327 | 335 | ENSG00000171246 | missense_variant | NA | NA |
17 | 80,582,525 | C | T | false | distal | 921 | rs4075782 | 0.000147 | 0.11173 | 250.22 | intron_variant | CA_flank | ENSG00000141564 | 36,733 | ENSG00000141564 | 10,718 | 10,718 | ENSG00000141564 | CA_flank | ENSG00000141564 | 37,056 | ENSG00000232083 | 20,400 | 20,400 | ENSG00000232083 | distal | NA | NA | |
17 | 80,855,575 | G | A | false | splicing | 923 | rs12943041 | 0.000082 | 0.21031 | 47.594 | intron_variant | dELS_flank | ENSG00000141564 | 27 | ENSG00000141564 | 27 | 27 | ENSG00000141564 | exon_proximal | ENSG00000141564 | 67,148 | ENSG00000287403 | 28,674 | 28,674 | ENSG00000287403 | splicing | NA | splicing:b1 | |
17 | 80,880,516 | C | T | false | splicing | 923 | rs2289760 | 0.000176 | 0.26616 | 112.09 | intron_variant | dELS_flank | ENSG00000141564 | 26 | ENSG00000141564 | 26 | 26 | ENSG00000141564 | exon_proximal | ENSG00000141564 | 42,207 | ENSG00000287403 | 53,615 | 42,207 | ENSG00000141564 | splicing | NA | splicing:b1 | |
17 | 80,927,610 | C | G | false | distal | 883 | rs4969307 | 0.000183 | 0.35245 | 96.847 | intron_variant | dELS | ENSG00000141564 | 2,129 | ENSG00000141564 | 2,129 | 2,129 | ENSG00000141564 | dELS | ENSG00000141564 | 4,885 | ENSG00000262313 | 14,422 | 4,885 | ENSG00000141564 | distal | NA | NA | |
17 | 80,972,295 | C | T | false | distal | 840 | rs148942008 | 0.000106 | 0.018831 | 31.153 | intergenic_variant | pELS | ENSG00000141564 | 5,926 | ENSG00000261924 | 1,081 | 1,081 | ENSG00000261924 | pELS | ENSG00000176108 | 19,302 | ENSG00000261924 | 1,081 | 1,081 | ENSG00000261924 | distal | NA | NA | |
17 | 80,991,297 | A | G | false | tss_proximal | 897 | rs7503306 | 0.000097 | 0.033172 | 63.494 | upstream_gene_variant | pELS | ENSG00000176108 | 300 | ENSG00000263218 | 8,211 | 300 | ENSG00000176108 | tss_proximal | ENSG00000176108 | 300 | ENSG00000263218 | 8,829 | 300 | ENSG00000176108 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 80,992,865 | G | A | false | distal | 844 | rs117050004 | 0.000068 | 0.014485 | 22.741 | intron_variant | pELS_flank | ENSG00000176108 | 883 | ENSG00000263218 | 6,643 | 883 | ENSG00000176108 | pELS_flank | ENSG00000176108 | 1,023 | ENSG00000263218 | 7,261 | 1,023 | ENSG00000176108 | distal | NA | NA | |
17 | 81,036,970 | A | G | false | tss_proximal | 866 | rs189389485 | 0.000846 | 0.002314 | 6.5489 | intron_variant | pELS_flank | ENSG00000175866 | 8 | ENSG00000175866 | 8 | 8 | ENSG00000175866 | tss_proximal | ENSG00000175866 | 966 | ENSG00000175866 | 1,793 | 966 | ENSG00000175866 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 81,049,580 | G | A | false | distal | 878 | rs6565531 | 0.000592 | 0.43159 | 61.136 | intron_variant | dELS | ENSG00000175866 | 3,781 | ENSG00000175866 | 3,781 | 3,781 | ENSG00000175866 | dELS | ENSG00000175866 | 3,781 | ENSG00000175866 | 3,781 | 3,781 | ENSG00000175866 | distal | NA | NA | |
17 | 81,050,153 | C | T | false | distal | 847 | rs58337218 | 0.000076 | 0.33978 | 51.638 | intron_variant | dELS_flank | ENSG00000175866 | 3,208 | ENSG00000175866 | 3,208 | 3,208 | ENSG00000175866 | dELS_flank | ENSG00000175866 | 3,208 | ENSG00000175866 | 3,208 | 3,208 | ENSG00000175866 | distal | NA | NA | |
17 | 81,114,475 | G | T | false | 3_prime_UTR_variant | 912 | rs117765426 | 0.000446 | 0.015957 | 22.142 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000181409 | 0 | ENSG00000175866 | 1,294 | 0 | ENSG00000181409 | 3_prime_UTR_variant | ENSG00000175866 | 10,472 | ENSG00000181409 | 7,029 | 7,029 | ENSG00000181409 | 3_prime_UTR_variant | NA | NA | |
17 | 81,122,315 | C | T | false | missense_variant | 817 | rs61738821 | 0.000194 | 0.12981 | 43.01 | missense_variant | missense_variant | ENSG00000181409 | 0 | ENSG00000181409 | 0 | 0 | ENSG00000181409 | missense_variant | ENSG00000181409 | 6,282 | ENSG00000181409 | 809 | 809 | ENSG00000181409 | missense_variant | NA | NA | |
17 | 81,128,527 | G | A | false | synonymous_variant | 896 | rs56384363 | 0.000108 | 0.006656 | 13.025 | synonymous_variant | synonymous_variant | ENSG00000181409 | 0 | ENSG00000181409 | 0 | 0 | ENSG00000181409 | synonymous_variant | ENSG00000181409 | 70 | ENSG00000181409 | 372 | 70 | ENSG00000181409 | synonymous_variant | NA | NA | |
17 | 81,190,688 | C | T | false | missense_variant | 830 | rs117616373 | 0.000869 | 0.044739 | 35.955 | missense_variant | missense_variant | ENSG00000141577 | 0 | ENSG00000262115 | 6,704 | 0 | ENSG00000141577 | missense_variant | ENSG00000141577 | 1,687 | ENSG00000262115 | 6,704 | 1,687 | ENSG00000141577 | missense_variant | NA | NA | |
17 | 81,251,240 | C | T | false | missense_variant | 814 | rs116990218 | 0.000842 | 0.002862 | 9.8038 | missense_variant | missense_variant | ENSG00000157637 | 0 | ENSG00000157637 | 0 | 0 | ENSG00000157637 | missense_variant | ENSG00000157637 | 1,031 | ENSG00000276101 | 45 | 45 | ENSG00000276101 | missense_variant | NA | NA | |
17 | 81,276,496 | A | C | false | distal | 849 | rs563405953 | 0.000105 | 0.001856 | 11.974 | intron_variant | dELS_flank | ENSG00000157637 | 344 | ENSG00000157637 | 344 | 344 | ENSG00000157637 | dELS_flank | ENSG00000157637 | 5,767 | ENSG00000157637 | 5,719 | 5,719 | ENSG00000157637 | distal | NA | NA | |
17 | 81,299,685 | T | C | false | distal | 878 | rs7219431 | 0.002132 | 0.43217 | 93.962 | intergenic_variant | dELS | ENSG00000157637 | 4,137 | ENSG00000185168 | 4,085 | 4,085 | ENSG00000185168 | dELS | ENSG00000157637 | 4,137 | ENSG00000157637 | 4,770 | 4,137 | ENSG00000157637 | distal | NA | NA | |
17 | 81,310,558 | C | T | false | distal | 840 | rs148659293 | 0.001426 | 0.023723 | 13.227 | downstream_gene_variant | pELS | ENSG00000157637 | 15,010 | ENSG00000185332 | 711 | 711 | ENSG00000185332 | pELS | ENSG00000157637 | 15,010 | ENSG00000185168 | 1,279 | 1,279 | ENSG00000185168 | distal | NA | NA | |
17 | 81,364,586 | C | A | false | distal | 881 | rs9899391 | 0.000141 | 0.001426 | 11.286 | intron_variant | dELS | ENSG00000266074 | 30,870 | ENSG00000263154 | 2,264 | 2,264 | ENSG00000263154 | dELS | ENSG00000266074 | 30,870 | ENSG00000263154 | 2,313 | 2,313 | ENSG00000263154 | distal | NA | NA | |
17 | 81,395,365 | C | T | false | tss_proximal | 930 | rs62072954 | 0.000122 | 0.11389 | 24.346 | upstream_gene_variant | PLS | ENSG00000266074 | 91 | ENSG00000279692 | 243 | 91 | ENSG00000266074 | tss_proximal | ENSG00000266074 | 91 | ENSG00000279692 | 1,778 | 91 | ENSG00000266074 | tss_proximal | tss_prox:b0 | tss_prox:b0 | |
17 | 81,445,439 | C | A | false | missense_variant | 818 | rs116255905 | 0.003416 | 0.088842 | 58.815 | missense_variant | missense_variant | ENSG00000266074 | 0 | ENSG00000266074 | 1,165 | 0 | ENSG00000266074 | missense_variant | ENSG00000266074 | 49,963 | ENSG00000266074 | 1,973 | 1,973 | ENSG00000266074 | missense_variant | NA | NA | |
17 | 81,558,634 | A | G | true | 3_prime_UTR_variant | 918 | rs3208787 | 0.999975 | RBC | 0.16522 | 92.473 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000182446 | 0 | ENSG00000182446 | 379 | 0 | ENSG00000182446 | 3_prime_UTR_variant | ENSG00000185504 | 4,672 | ENSG00000182446 | 2,254 | 2,254 | ENSG00000182446 | 3_prime_UTR_variant | NA | NA |
17 | 81,572,047 | C | A | false | synonymous_variant | 896 | rs17852307 | 0.001616 | 0.008725 | 49.199 | synonymous_variant | synonymous_variant | ENSG00000182446 | 0 | ENSG00000182446 | 0 | 0 | ENSG00000182446 | synonymous_variant | ENSG00000182446 | 25 | ENSG00000182446 | 60 | 25 | ENSG00000182446 | synonymous_variant | NA | NA | |
17 | 81,572,172 | T | A | false | tss_proximal | 930 | rs72855648 | 0.000311 | 0.11632 | 176.24 | intron_variant | TF | ENSG00000182446 | 83 | ENSG00000182446 | 63 | 63 | ENSG00000182446 | tss_proximal | ENSG00000182446 | 98 | ENSG00000182446 | 63 | 63 | ENSG00000182446 | tss_proximal | tss_prox:b0 | tss_prox:b0 | |
17 | 81,572,710 | C | G | false | tss_proximal | 900 | rs73369234 | 0.000686 | 0.041808 | 151.06 | intron_variant | pELS_flank | ENSG00000182446 | 621 | ENSG00000182446 | 601 | 601 | ENSG00000182446 | tss_proximal | ENSG00000182446 | 636 | ENSG00000182446 | 601 | 601 | ENSG00000182446 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 81,644,329 | C | T | false | distal | 877 | rs74002480 | 0.000329 | 0.34094 | 225.2 | intron_variant | dELS | ENSG00000182612 | 662 | ENSG00000182612 | 662 | 662 | ENSG00000182612 | dELS | ENSG00000182612 | 7,126 | ENSG00000182612 | 1,992 | 1,992 | ENSG00000182612 | distal | NA | NA | |
17 | 81,645,307 | G | A | false | missense_variant | 825 | rs6565617 | 0.000322 | 0.34122 | 225.14 | missense_variant | missense_variant | ENSG00000182612 | 0 | ENSG00000182612 | 0 | 0 | ENSG00000182612 | missense_variant | ENSG00000182612 | 8,104 | ENSG00000182612 | 2,970 | 2,970 | ENSG00000182612 | missense_variant | NA | NA | |
17 | 81,645,356 | T | C | false | missense_variant | 825 | rs7210026 | 0.000319 | 0.34122 | 225.14 | missense_variant | missense_variant | ENSG00000182612 | 0 | ENSG00000182612 | 0 | 0 | ENSG00000182612 | missense_variant | ENSG00000182612 | 8,153 | ENSG00000182612 | 3,019 | 3,019 | ENSG00000182612 | missense_variant | NA | NA | |
17 | 81,646,861 | T | G | false | distal | 877 | rs199653851 | 0.000343 | 0.33995 | 224.21 | intron_variant | dELS | ENSG00000182612 | 595 | ENSG00000182612 | 279 | 279 | ENSG00000182612 | dELS | ENSG00000185527 | 6,832 | ENSG00000182446 | 1,603 | 1,603 | ENSG00000182446 | distal | NA | NA | |
17 | 81,648,366 | G | T | false | 3_prime_UTR_variant | 915 | rs7406522 | 0.00033 | 0.34126 | 225.13 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000182612 | 0 | ENSG00000182612 | 0 | 0 | ENSG00000182612 | 3_prime_UTR_variant | ENSG00000185527 | 5,327 | ENSG00000182446 | 98 | 98 | ENSG00000182446 | 3_prime_UTR_variant | NA | NA | |
17 | 81,650,675 | G | A | false | 3_prime_UTR_variant | 914 | rs13372 | 0.000956 | 0.14686 | 205.05 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000185527 | 0 | ENSG00000185527 | 0 | 0 | ENSG00000185527 | 3_prime_UTR_variant | ENSG00000185527 | 3,018 | ENSG00000182446 | 2,209 | 2,209 | ENSG00000182446 | 3_prime_UTR_variant | NA | NA | |
17 | 81,650,800 | G | A | false | 3_prime_UTR_variant | 914 | rs1126818 | 0.000957 | 0.1469 | 205.04 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000185527 | 0 | ENSG00000185527 | 0 | 0 | ENSG00000185527 | 3_prime_UTR_variant | ENSG00000185527 | 2,893 | ENSG00000182446 | 2,334 | 2,334 | ENSG00000182446 | 3_prime_UTR_variant | NA | NA | |
17 | 81,670,337 | C | G | false | missense_variant | 816 | rs7226091 | 0.005662 | 0.21516 | 200.97 | missense_variant | missense_variant | ENSG00000185298 | 0 | ENSG00000185298 | 0 | 0 | ENSG00000185298 | missense_variant | ENSG00000185298 | 3,581 | ENSG00000185298 | 1,251 | 1,251 | ENSG00000185298 | missense_variant | NA | NA | |
17 | 81,679,807 | C | T | false | distal | 850 | rs34378781 | 0.001654 | 0.22756 | 205.95 | intergenic_variant | dELS_flank | ENSG00000214087 | 1,379 | ENSG00000214087 | 1,379 | 1,379 | ENSG00000214087 | dELS_flank | ENSG00000185359 | 3,518 | ENSG00000214087 | 3,318 | 3,318 | ENSG00000214087 | distal | NA | NA | |
17 | 81,686,994 | C | T | false | missense_variant | 831 | rs111956772 | 0.001545 | 0.011816 | 28.675 | missense_variant | missense_variant | ENSG00000185359 | 0 | ENSG00000185359 | 8 | 0 | ENSG00000185359 | missense_variant | ENSG00000185359 | 1,356 | ENSG00000185359 | 91 | 91 | ENSG00000185359 | missense_variant | NA | NA | |
17 | 81,693,157 | C | T | false | tss_proximal | 898 | rs7216239 | 0.000961 | 0.14236 | 200.53 | intron_variant | pELS | ENSG00000185359 | 327 | ENSG00000185359 | 142 | 142 | ENSG00000185359 | tss_proximal | ENSG00000185359 | 345 | ENSG00000185359 | 242 | 242 | ENSG00000185359 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 81,735,288 | G | A | false | distal | 874 | rs4073929 | 0.002452 | 0.13684 | 91.322 | intergenic_variant | dELS | ENSG00000183048 | 14,271 | ENSG00000183048 | 14,836 | 14,271 | ENSG00000183048 | dELS | ENSG00000183048 | 22,980 | ENSG00000183048 | 19,315 | 19,315 | ENSG00000183048 | distal | NA | NA | |
17 | 81,919,357 | G | A | false | 3_prime_UTR_variant | 916 | rs146529730 | 0.000226 | 0.040756 | 33.898 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000197063 | 0 | ENSG00000187531 | 1,180 | 0 | ENSG00000197063 | 3_prime_UTR_variant | ENSG00000187531 | 1,180 | ENSG00000187531 | 1,180 | 1,180 | ENSG00000187531 | 3_prime_UTR_variant | NA | NA |
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