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 | 16,624,264 | T | C | false | missense_variant | 819 | rs149146824 | 0.000338 | 0.000443 | 6.8974 | missense_variant | missense_variant | ENSG00000197566 | 0 | ENSG00000197566 | 0 | 0 | ENSG00000197566 | missense_variant | ENSG00000197566 | 29,573 | ENSG00000197566 | 522 | 522 | ENSG00000197566 | missense_variant | NA | NA | |
17 | 16,939,677 | G | A | true | missense_variant | 818 | rs34562254 | 1 | AG,NAP,TP | 0.097749 | 72.971 | missense_variant | missense_variant | ENSG00000240505 | 0 | ENSG00000240505 | 0 | 0 | ENSG00000240505 | missense_variant | ENSG00000240505 | 32,409 | ENSG00000240505 | 1,384 | 1,384 | ENSG00000240505 | missense_variant | NA | NA |
17 | 16,939,770 | A | G | false | missense_variant | 833 | rs56063729 | 0.000437 | 0.018199 | 67.154 | missense_variant | missense_variant | ENSG00000240505 | 0 | ENSG00000240505 | 0 | 0 | ENSG00000240505 | missense_variant | ENSG00000240505 | 32,316 | ENSG00000240505 | 1,291 | 1,291 | ENSG00000240505 | missense_variant | NA | NA | |
17 | 16,940,352 | C | T | false | missense_variant | 819 | rs104894649 | 0.000423 | 0.000989 | 2.694 | missense_variant | missense_variant | ENSG00000240505 | 0 | ENSG00000240505 | 0 | 0 | ENSG00000240505 | missense_variant | ENSG00000240505 | 31,734 | ENSG00000240505 | 709 | 709 | ENSG00000240505 | missense_variant | NA | NA | |
17 | 16,940,394 | T | A | false | missense_variant | 819 | rs74811083 | 0.000782 | 0.00005 | 12.576 | missense_variant | missense_variant | ENSG00000240505 | 0 | ENSG00000240505 | 0 | 0 | ENSG00000240505 | missense_variant | ENSG00000240505 | 31,692 | ENSG00000240505 | 667 | 667 | ENSG00000240505 | missense_variant | NA | NA | |
17 | 16,940,445 | A | C | true | missense_variant | 819 | rs143027621 | 1 | AG,NAP | 0.000257 | 2.1161 | missense_variant | missense_variant | ENSG00000240505 | 0 | ENSG00000240505 | 0 | 0 | ENSG00000240505 | missense_variant | ENSG00000240505 | 31,641 | ENSG00000240505 | 616 | 616 | ENSG00000240505 | missense_variant | NA | NA |
17 | 16,948,765 | C | T | false | missense_variant | 820 | rs199578237 | 0.000131 | 0.003734 | 17.455 | missense_variant | missense_variant | ENSG00000240505 | 0 | ENSG00000240505 | 0 | 0 | ENSG00000240505 | missense_variant | ENSG00000240505 | 23,321 | ENSG00000240505 | 7,702 | 7,702 | ENSG00000240505 | missense_variant | NA | NA | |
17 | 16,948,872 | C | T | true | missense_variant | 820 | rs72553879 | 0.99662 | AG,NAP | 0.000184 | 2.2752 | missense_variant | missense_variant | ENSG00000240505 | 0 | ENSG00000240505 | 0 | 0 | ENSG00000240505 | missense_variant | ENSG00000240505 | 23,214 | ENSG00000240505 | 7,809 | 7,809 | ENSG00000240505 | missense_variant | NA | NA |
17 | 16,948,873 | A | G | true | missense_variant | 821 | rs34557412 | 1 | AG,Alb,Lym,MCV,Mono,NAP,Plt,RBC,TP,WBC | 0.00714 | 13.76 | missense_variant | missense_variant | ENSG00000240505 | 0 | ENSG00000240505 | 0 | 0 | ENSG00000240505 | missense_variant | ENSG00000240505 | 23,213 | ENSG00000240505 | 7,810 | 7,810 | ENSG00000240505 | missense_variant | NA | NA |
17 | 16,948,923 | A | T | false | missense_variant | 820 | rs72553877 | 0.001744 | 0.000468 | 3.5225 | missense_variant | missense_variant | ENSG00000240505 | 0 | ENSG00000240505 | 0 | 0 | ENSG00000240505 | missense_variant | ENSG00000240505 | 23,163 | ENSG00000240505 | 7,860 | 7,860 | ENSG00000240505 | missense_variant | NA | NA | |
17 | 16,948,947 | T | C | false | missense_variant | 820 | rs72553876 | 0.009453 | 0.000361 | 2.5037 | missense_variant | missense_variant | ENSG00000240505 | 0 | ENSG00000240505 | 0 | 0 | ENSG00000240505 | missense_variant | ENSG00000240505 | 23,139 | ENSG00000240505 | 7,884 | 7,884 | ENSG00000240505 | missense_variant | NA | NA | |
17 | 16,989,527 | T | C | true | distal | 841 | rs7214091 | 1 | AG,NAP,TP | 0.403 | 54.194 | intron_variant | pELS | ENSG00000240505 | 17,408 | ENSG00000230969 | 476 | 476 | ENSG00000230969 | pELS | ENSG00000240505 | 17,408 | ENSG00000230969 | 1,197 | 1,197 | ENSG00000230969 | distal | NA | NA |
17 | 16,996,401 | G | A | false | distal | 928 | rs34325990 | 0.000191 | 0.13211 | 64.995 | intergenic_variant | CA-CTCF_flank | ENSG00000240505 | 24,282 | ENSG00000230969 | 6,223 | 6,223 | ENSG00000230969 | CA-CTCF_flank | ENSG00000240505 | 24,282 | ENSG00000230969 | 8,071 | 8,071 | ENSG00000230969 | distal | NA | NA | |
17 | 17,042,357 | C | T | false | tss_proximal | 930 | rs113484313 | 0.0004 | 0.12112 | 92.607 | upstream_gene_variant | PLS | ENSG00000133030 | 99 | ENSG00000287910 | 51 | 51 | ENSG00000287910 | tss_proximal | ENSG00000133030 | 99 | ENSG00000287910 | 51 | 51 | ENSG00000287910 | tss_proximal | tss_prox:b0 | tss_prox:b0 | |
17 | 17,176,589 | T | C | false | tss_proximal | 866 | rs144189449 | 0.000144 | 0.001955 | 201.35 | intron_variant | pELS | ENSG00000133030 | 76 | ENSG00000133030 | 76 | 76 | ENSG00000133030 | tss_proximal | ENSG00000133030 | 662 | ENSG00000243370 | 1,824 | 662 | ENSG00000133030 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 17,234,845 | C | T | false | distal | 843 | rs8065774 | 0.008494 | 0.19156 | 133.94 | intron_variant | pELS_flank | ENSG00000154803 | 1,943 | ENSG00000266498 | 587 | 587 | ENSG00000266498 | pELS_flank | ENSG00000154803 | 2,293 | ENSG00000266498 | 1,272 | 1,272 | ENSG00000266498 | distal | NA | NA | |
17 | 17,238,464 | G | A | false | distal | 843 | rs76246042 | 0.003335 | 0.18969 | 133.51 | intergenic_variant | pELS_flank | ENSG00000154803 | 1,281 | ENSG00000154803 | 1,275 | 1,275 | ENSG00000154803 | pELS_flank | ENSG00000154803 | 1,281 | ENSG00000154803 | 1,275 | 1,275 | ENSG00000154803 | distal | NA | NA | |
17 | 17,317,618 | T | C | false | distal | 927 | rs9912599 | 0.000414 | 0.30479 | 110.3 | intron_variant | CA-CTCF | ENSG00000205309 | 5,566 | ENSG00000205309 | 5,566 | 5,566 | ENSG00000205309 | CA-CTCF | ENSG00000205309 | 14,244 | ENSG00000205309 | 13,939 | 13,939 | ENSG00000205309 | distal | NA | NA | |
17 | 17,386,266 | A | G | false | distal | 872 | rs149600266 | 0.000078 | 0.010928 | 14.61 | intergenic_variant | dELS | ENSG00000205309 | 38,602 | ENSG00000215030 | 2,253 | 2,253 | ENSG00000215030 | dELS | ENSG00000205309 | 82,892 | ENSG00000215030 | 2,253 | 2,253 | ENSG00000215030 | distal | NA | NA | |
17 | 17,387,498 | G | A | false | distal | 872 | rs547149986 | 0.000059 | 0.003451 | 16.817 | intergenic_variant | dELS | ENSG00000205309 | 39,834 | ENSG00000215030 | 3,485 | 3,485 | ENSG00000215030 | dELS | ENSG00000205309 | 84,124 | ENSG00000215030 | 3,485 | 3,485 | ENSG00000215030 | distal | NA | NA | |
17 | 17,389,002 | C | T | true | distal | 872 | rs138019528 | 0.999815 | AG,NAP,Plt | 0.004325 | 8.5269 | intergenic_variant | dELS | ENSG00000205309 | 41,338 | ENSG00000290056 | 2,813 | 2,813 | ENSG00000290056 | dELS | ENSG00000205309 | 85,628 | ENSG00000290056 | 2,813 | 2,813 | ENSG00000290056 | distal | NA | NA |
17 | 17,389,069 | T | C | false | distal | 872 | rs9897035 | 0.00025 | 0.001327 | 208.53 | intergenic_variant | dELS | ENSG00000205309 | 41,405 | ENSG00000290056 | 2,746 | 2,746 | ENSG00000290056 | dELS | ENSG00000205309 | 85,695 | ENSG00000290056 | 2,746 | 2,746 | ENSG00000290056 | distal | NA | NA | |
17 | 17,577,089 | A | T | false | tss_proximal | 866 | rs70959685 | 0.000407 | 0.00533 | 16.615 | intron_variant | pELS | ENSG00000133027 | 61 | ENSG00000133027 | 61 | 61 | ENSG00000133027 | tss_proximal | ENSG00000133027 | 375 | ENSG00000206730 | 1,541 | 375 | ENSG00000133027 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 17,630,413 | C | T | false | distal | 920 | rs112069496 | 0.000134 | 0.017908 | 77.355 | intergenic_variant | CA_flank | ENSG00000133027 | 38,704 | ENSG00000279200 | 12,667 | 12,667 | ENSG00000279200 | CA_flank | ENSG00000133027 | 38,704 | ENSG00000279200 | 14,369 | 14,369 | ENSG00000279200 | distal | NA | NA | |
17 | 17,630,582 | C | T | true | distal | 920 | rs186920574 | 0.97511 | DVT | 0.007451 | 24.37 | intergenic_variant | CA_flank | ENSG00000133027 | 38,873 | ENSG00000279200 | 12,836 | 12,836 | ENSG00000279200 | CA_flank | ENSG00000133027 | 38,873 | ENSG00000279200 | 14,538 | 14,538 | ENSG00000279200 | distal | NA | NA |
17 | 17,630,699 | A | G | false | distal | 920 | rs192514180 | 0.000076 | 0.001429 | 196.46 | intergenic_variant | CA_flank | ENSG00000133027 | 38,990 | ENSG00000279200 | 12,953 | 12,953 | ENSG00000279200 | CA_flank | ENSG00000133027 | 38,990 | ENSG00000279200 | 14,655 | 14,655 | ENSG00000279200 | distal | NA | NA | |
17 | 17,631,053 | C | T | false | distal | 920 | rs192810903 | 0.000943 | 0.002754 | 14.871 | intergenic_variant | CA_flank | ENSG00000133027 | 39,344 | ENSG00000279200 | 13,307 | 13,307 | ENSG00000279200 | CA_flank | ENSG00000133027 | 39,344 | ENSG00000279200 | 15,009 | 15,009 | ENSG00000279200 | distal | NA | NA | |
17 | 17,631,099 | A | C | false | distal | 920 | rs61030109 | 0.000134 | 0.017907 | 77.346 | intergenic_variant | CA_flank | ENSG00000133027 | 39,390 | ENSG00000279200 | 13,353 | 13,353 | ENSG00000279200 | CA_flank | ENSG00000133027 | 39,390 | ENSG00000279200 | 15,055 | 15,055 | ENSG00000279200 | distal | NA | NA | |
17 | 17,825,669 | A | G | false | distal | 870 | rs11078399 | 0.001862 | 0.34475 | 410.52 | intron_variant | dELS | ENSG00000072310 | 2,050 | ENSG00000072310 | 2,064 | 2,050 | ENSG00000072310 | dELS | ENSG00000072310 | 2,050 | ENSG00000072310 | 2,064 | 2,050 | ENSG00000072310 | distal | NA | NA | |
17 | 17,887,005 | C | A | false | distal | 883 | rs11650649 | 0.009708 | 0.36761 | 411.64 | intron_variant | dELS | ENSG00000175662 | 2,236 | ENSG00000175662 | 2,236 | 2,236 | ENSG00000175662 | dELS | ENSG00000175662 | 14,940 | ENSG00000175662 | 14,946 | 14,940 | ENSG00000175662 | distal | NA | NA | |
17 | 17,978,706 | T | G | false | distal | 850 | rs3935505 | 0.000372 | 0.23564 | 299.8 | intron_variant | dELS_flank | ENSG00000171962 | 947 | ENSG00000171953 | 729 | 729 | ENSG00000171953 | dELS_flank | ENSG00000171962 | 5,743 | ENSG00000230273 | 2,865 | 2,865 | ENSG00000230273 | distal | NA | NA | |
17 | 17,978,745 | G | A | false | distal | 850 | rs3935506 | 0.000507 | 0.23512 | 299.76 | intron_variant | dELS_flank | ENSG00000171962 | 986 | ENSG00000171953 | 768 | 768 | ENSG00000171953 | dELS_flank | ENSG00000171962 | 5,782 | ENSG00000230273 | 2,826 | 2,826 | ENSG00000230273 | distal | NA | NA | |
17 | 17,978,773 | G | A | false | distal | 850 | rs4635395 | 0.000445 | 0.23503 | 299.56 | intron_variant | dELS_flank | ENSG00000171962 | 1,014 | ENSG00000171953 | 796 | 796 | ENSG00000171953 | dELS_flank | ENSG00000171962 | 5,810 | ENSG00000230273 | 2,798 | 2,798 | ENSG00000230273 | distal | NA | NA | |
17 | 18,039,426 | G | A | false | 5_prime_UTR_variant | 893 | rs377757723 | 0.000442 | 0.012127 | 32.681 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000141034 | 0 | ENSG00000171953 | 224 | 0 | ENSG00000141034 | 5_prime_UTR_variant | ENSG00000141034 | 17 | ENSG00000171953 | 224 | 17 | ENSG00000141034 | 5_prime_UTR_variant | NA | NA | |
17 | 18,073,040 | G | A | false | distal | 927 | rs62073573 | 0.001294 | 0.30127 | 382.25 | intergenic_variant | CA-CTCF | ENSG00000141034 | 4,634 | ENSG00000141034 | 5,073 | 4,634 | ENSG00000141034 | CA-CTCF | ENSG00000108591 | 14,884 | ENSG00000141034 | 6,950 | 6,950 | ENSG00000141034 | distal | NA | NA | |
17 | 18,086,043 | C | A | false | distal | 905 | rs118165232 | 0.000249 | 0.00613 | 53.065 | intergenic_variant | intergenic_variant | ENSG00000108591 | 1,881 | ENSG00000108591 | 1,848 | 1,848 | ENSG00000108591 | intergenic_variant | ENSG00000108591 | 1,881 | ENSG00000108591 | 1,848 | 1,848 | ENSG00000108591 | distal | NA | NA | |
17 | 18,143,584 | T | C | false | missense_variant | 828 | rs854777 | 0.004883 | 0.24876 | 169.54 | missense_variant | missense_variant | ENSG00000091536 | 0 | ENSG00000091536 | 1,446 | 0 | ENSG00000091536 | missense_variant | ENSG00000091536 | 9,810 | ENSG00000091536 | 2,429 | 2,429 | ENSG00000091536 | missense_variant | NA | NA | |
17 | 18,148,133 | C | T | false | missense_variant | 812 | rs121908970 | 0.00238 | 0.004834 | 21.841 | missense_variant | missense_variant | ENSG00000091536 | 0 | ENSG00000091536 | 0 | 0 | ENSG00000091536 | missense_variant | ENSG00000091536 | 5,261 | ENSG00000091536 | 2,118 | 2,118 | ENSG00000091536 | missense_variant | NA | NA | |
17 | 18,148,792 | G | A | false | missense_variant | 812 | rs114274755 | 0.000077 | 0.002917 | 39.696 | missense_variant | missense_variant | ENSG00000091536 | 0 | ENSG00000091536 | 0 | 0 | ENSG00000091536 | missense_variant | ENSG00000091536 | 4,602 | ENSG00000091536 | 2,777 | 2,777 | ENSG00000091536 | missense_variant | NA | NA | |
17 | 18,240,515 | G | A | false | distal | 849 | rs536389655 | 0.002913 | 0.001044 | 55.251 | intron_variant | dELS_flank | ENSG00000131899 | 62 | ENSG00000131899 | 62 | 62 | ENSG00000131899 | dELS_flank | ENSG00000177731 | 5,546 | ENSG00000177731 | 5,452 | 5,452 | ENSG00000177731 | distal | NA | NA | |
17 | 18,256,476 | C | T | false | tss_proximal | 866 | rs186690647 | 0.000205 | 0.007018 | 34.074 | intron_variant | dELS | ENSG00000177731 | 49 | ENSG00000177731 | 48 | 48 | ENSG00000177731 | tss_proximal | ENSG00000177731 | 799 | ENSG00000177731 | 1,837 | 799 | ENSG00000177731 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 18,258,631 | G | T | false | missense_variant | 835 | rs145840264 | 0.000107 | 0.031272 | 62.146 | missense_variant | missense_variant | ENSG00000177731 | 0 | ENSG00000177731 | 0 | 0 | ENSG00000177731 | missense_variant | ENSG00000177731 | 58 | ENSG00000177731 | 59 | 58 | ENSG00000177731 | missense_variant | NA | NA | |
17 | 18,290,928 | C | T | false | missense_variant | 822 | rs61753153 | 0.000246 | 0.000911 | 48.429 | missense_variant | missense_variant | ENSG00000177302 | 0 | ENSG00000177302 | 0 | 0 | ENSG00000177302 | missense_variant | ENSG00000177302 | 16,050 | ENSG00000177302 | 11 | 11 | ENSG00000177302 | missense_variant | NA | NA | |
17 | 18,290,934 | C | T | false | missense_variant | 822 | rs28671051 | 0.000318 | 0.002421 | 80.275 | missense_variant | missense_variant | ENSG00000177302 | 0 | ENSG00000177302 | 0 | 0 | ENSG00000177302 | missense_variant | ENSG00000177302 | 16,056 | ENSG00000177302 | 17 | 17 | ENSG00000177302 | missense_variant | NA | NA | |
17 | 18,635,691 | C | A | false | 3_prime_UTR_variant | 917 | rs3752014 | 0.000975 | 0.064925 | 98.106 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000189375 | 0 | ENSG00000262262 | 2,327 | 0 | ENSG00000189375 | 3_prime_UTR_variant | ENSG00000189375 | 6,732 | ENSG00000262262 | 2,678 | 2,678 | ENSG00000262262 | 3_prime_UTR_variant | NA | NA | |
17 | 18,641,079 | T | C | false | missense_variant | 817 | rs200600755 | 0.000179 | 0.1238 | 100.5 | missense_variant | missense_variant | ENSG00000189375 | 0 | ENSG00000287058 | 0 | 0 | ENSG00000189375 | missense_variant | ENSG00000189375 | 1,344 | ENSG00000189375 | 1,749 | 1,344 | ENSG00000189375 | missense_variant | NA | NA | |
17 | 19,004,621 | G | A | false | tss_proximal | 867 | rs57881452 | 0.000155 | 0.024247 | 59.897 | intron_variant | PLS_flank | ENSG00000188522 | 87 | ENSG00000188522 | 840 | 87 | ENSG00000188522 | tss_proximal | ENSG00000188522 | 142 | ENSG00000188522 | 840 | 142 | ENSG00000188522 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 19,011,375 | G | A | false | distal | 854 | rs2428371 | 0.00023 | 0.27123 | 42.65 | intron_variant | dELS_flank | ENSG00000154025 | 1,986 | ENSG00000154025 | 6,265 | 1,986 | ENSG00000154025 | dELS_flank | ENSG00000188522 | 6,610 | ENSG00000154025 | 6,265 | 6,265 | ENSG00000154025 | distal | NA | NA | |
17 | 19,019,867 | C | T | false | missense_variant | 833 | rs12604020 | 0.000089 | 0.021045 | 47.506 | missense_variant | missense_variant | ENSG00000154025 | 0 | ENSG00000154025 | 137 | 0 | ENSG00000154025 | missense_variant | ENSG00000188522 | 15,102 | ENSG00000154025 | 2,225 | 2,225 | ENSG00000154025 | missense_variant | NA | NA | |
17 | 19,048,470 | A | G | false | distal | 845 | rs191804091 | 0.000083 | 0.038443 | 37.167 | intergenic_variant | pELS_flank | ENSG00000154016 | 1,472 | ENSG00000154016 | 1,458 | 1,458 | ENSG00000154016 | pELS_flank | ENSG00000154016 | 1,472 | ENSG00000154016 | 1,458 | 1,458 | ENSG00000154016 | distal | NA | NA | |
17 | 19,387,492 | G | A | false | tss_proximal | 899 | rs8069196 | 0.000113 | 0.00861 | 231.11 | upstream_gene_variant | pELS | ENSG00000166482 | 301 | ENSG00000166482 | 301 | 301 | ENSG00000166482 | tss_proximal | ENSG00000166482 | 301 | ENSG00000166482 | 301 | 301 | ENSG00000166482 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 19,388,800 | G | A | false | distal | 845 | rs117948526 | 0.00006 | 0.035735 | 12.173 | intergenic_variant | pELS_flank | ENSG00000166482 | 1,609 | ENSG00000166482 | 1,609 | 1,609 | ENSG00000166482 | pELS_flank | ENSG00000166482 | 1,609 | ENSG00000166482 | 1,609 | 1,609 | ENSG00000166482 | distal | NA | NA | |
17 | 19,426,128 | T | G | false | distal | 861 | rs6587123 | 0.001954 | 0.13815 | 128.83 | intron_variant | dELS_flank | ENSG00000128482 | 8,851 | ENSG00000235979 | 689 | 689 | ENSG00000235979 | dELS_flank | ENSG00000128482 | 14,895 | ENSG00000283675 | 5,848 | 5,848 | ENSG00000283675 | distal | NA | NA | |
17 | 19,506,841 | A | G | false | distal | 858 | rs8078478 | 0.000357 | 0.22337 | 135.42 | intron_variant | dELS_flank | ENSG00000142494 | 26,620 | ENSG00000228331 | 9,312 | 9,312 | ENSG00000228331 | dELS_flank | ENSG00000142494 | 26,620 | ENSG00000228331 | 9,897 | 9,897 | ENSG00000228331 | distal | NA | NA | |
17 | 19,506,842 | A | C | false | distal | 858 | rs8078479 | 0.000356 | 0.22337 | 135.42 | intron_variant | dELS_flank | ENSG00000142494 | 26,619 | ENSG00000228331 | 9,313 | 9,313 | ENSG00000228331 | dELS_flank | ENSG00000142494 | 26,619 | ENSG00000228331 | 9,898 | 9,898 | ENSG00000228331 | distal | NA | NA | |
17 | 19,506,849 | A | G | false | distal | 858 | rs8078481 | 0.000356 | 0.22337 | 135.42 | intron_variant | dELS_flank | ENSG00000142494 | 26,612 | ENSG00000228331 | 9,320 | 9,320 | ENSG00000228331 | dELS_flank | ENSG00000142494 | 26,612 | ENSG00000228331 | 9,905 | 9,905 | ENSG00000228331 | distal | NA | NA | |
17 | 19,548,031 | G | A | false | missense_variant | 821 | rs77138970 | 0.000118 | 0.0004 | 2.2413 | missense_variant | missense_variant | ENSG00000142494 | 0 | ENSG00000142494 | 0 | 0 | ENSG00000142494 | missense_variant | ENSG00000142494 | 14,150 | ENSG00000142494 | 7,477 | 7,477 | ENSG00000142494 | missense_variant | NA | NA | |
17 | 19,548,051 | C | T | false | missense_variant | 821 | rs77474263 | 0.000221 | 0.000048 | 1.3304 | missense_variant | missense_variant | ENSG00000142494 | 0 | ENSG00000142494 | 0 | 0 | ENSG00000142494 | missense_variant | ENSG00000142494 | 14,170 | ENSG00000142494 | 7,457 | 7,457 | ENSG00000142494 | missense_variant | NA | NA | |
17 | 19,555,892 | T | A | true | missense_variant | 822 | rs141572615 | 0.999995 | eGFR,sCr | 0.001939 | 9.7958 | missense_variant | missense_variant | ENSG00000142494 | 0 | ENSG00000142494 | 0 | 0 | ENSG00000142494 | missense_variant | ENSG00000142494 | 16,904 | ENSG00000142494 | 59 | 59 | ENSG00000142494 | missense_variant | NA | NA |
17 | 19,571,562 | C | T | true | missense_variant | 823 | rs111653425 | 1 | eGFR,sCr | 0.012201 | 12.526 | missense_variant | missense_variant | ENSG00000142494 | 0 | ENSG00000142494 | 0 | 0 | ENSG00000142494 | missense_variant | ENSG00000142494 | 1,234 | ENSG00000142494 | 4,422 | 1,234 | ENSG00000142494 | missense_variant | NA | NA |
17 | 19,647,913 | T | C | false | tss_proximal | 899 | rs3888642 | 0.000137 | 0.008411 | 53.87 | upstream_gene_variant | pELS | ENSG00000072210 | 222 | ENSG00000072210 | 266 | 222 | ENSG00000072210 | tss_proximal | ENSG00000072210 | 222 | ENSG00000072210 | 266 | 222 | ENSG00000072210 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 19,661,321 | C | G | false | missense_variant | 811 | rs1800869 | 0.001949 | 0.25809 | 194.89 | missense_variant | missense_variant | ENSG00000072210 | 0 | ENSG00000072210 | 0 | 0 | ENSG00000072210 | missense_variant | ENSG00000072210 | 2,011 | ENSG00000252349 | 678 | 678 | ENSG00000252349 | missense_variant | NA | NA | |
17 | 19,716,685 | G | A | false | 5_prime_UTR_variant | 888 | rs12943590 | 0.000112 | 0.26338 | 121.13 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000180638 | 0 | ENSG00000180638 | 0 | 0 | ENSG00000180638 | 5_prime_UTR_variant | ENSG00000180638 | 44 | ENSG00000180638 | 32 | 32 | ENSG00000180638 | 5_prime_UTR_variant | NA | NA | |
17 | 19,723,312 | C | A | false | distal | 884 | rs12945122 | 0.0004 | 0.36111 | 135.63 | downstream_gene_variant | dELS | ENSG00000180638 | 6,581 | ENSG00000262681 | 883 | 883 | ENSG00000262681 | dELS | ENSG00000180638 | 6,581 | ENSG00000262681 | 4,252 | 4,252 | ENSG00000262681 | distal | NA | NA | |
17 | 19,742,625 | A | C | false | missense_variant | 825 | rs887241 | 0.000215 | 0.34167 | 127.55 | missense_variant | missense_variant | ENSG00000108602 | 0 | ENSG00000108602 | 0 | 0 | ENSG00000108602 | missense_variant | ENSG00000108602 | 2,507 | ENSG00000108602 | 874 | 874 | ENSG00000108602 | missense_variant | NA | NA | |
17 | 19,870,130 | A | G | false | distal | 845 | rs166838 | 0.000046 | 0.037424 | 202.62 | intergenic_variant | pELS_flank | ENSG00000083290 | 2,193 | ENSG00000276406 | 1,440 | 1,440 | ENSG00000276406 | pELS_flank | ENSG00000083290 | 2,193 | ENSG00000276406 | 1,561 | 1,561 | ENSG00000276406 | distal | NA | NA | |
17 | 20,067,253 | T | C | false | 5_prime_UTR_variant | 891 | rs28644386 | 0.002625 | 0.13828 | 377.64 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000128487 | 0 | ENSG00000128487 | 9,435 | 0 | ENSG00000128487 | 5_prime_UTR_variant | ENSG00000128487 | 6,284 | ENSG00000225681 | 10,965 | 6,284 | ENSG00000128487 | 5_prime_UTR_variant | NA | NA | |
17 | 20,095,802 | C | T | false | 5_prime_UTR_variant | 887 | rs150245501 | 0.000037 | 0.008992 | 20.31 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000128487 | 0 | ENSG00000128487 | 828 | 0 | ENSG00000128487 | 5_prime_UTR_variant | ENSG00000128487 | 108 | ENSG00000128487 | 849 | 108 | ENSG00000128487 | 5_prime_UTR_variant | NA | NA | |
17 | 20,398,640 | C | T | false | distal | 924 | rs62066895 | 0.000232 | 0.41135 | 501.66 | intron_variant | intron_variant | ENSG00000170298 | 50,754 | ENSG00000154898 | 1,880 | 1,880 | ENSG00000154898 | intron_variant | ENSG00000170298 | 68,894 | ENSG00000189423 | 9,670 | 9,670 | ENSG00000189423 | distal | NA | NA | |
17 | 20,398,732 | T | C | false | distal | 924 | rs9907573 | 0.001148 | 0.39309 | 457.47 | intron_variant | intron_variant | ENSG00000170298 | 50,662 | ENSG00000154898 | 1,788 | 1,788 | ENSG00000154898 | intron_variant | ENSG00000170298 | 68,802 | ENSG00000189423 | 9,578 | 9,578 | ENSG00000189423 | distal | NA | NA | |
17 | 20,452,040 | C | T | false | non_coding_transcript_exon_variant | 864 | rs575260874 | 0.000052 | 0.003462 | 89.988 | non_coding_transcript_exon_variant | non_coding_transcript_exon_variant | ENSG00000170298 | 156 | ENSG00000170298 | 0 | 0 | ENSG00000170298 | non_coding_transcript_exon_variant | ENSG00000170298 | 15,494 | ENSG00000170298 | 130 | 130 | ENSG00000170298 | non_coding_transcript_exon_variant | NA | NA | |
17 | 20,467,646 | G | T | false | tss_proximal | 898 | rs112578423 | 0.000126 | 0.1423 | 364.43 | upstream_gene_variant | PLS | ENSG00000170298 | 106 | ENSG00000170298 | 106 | 106 | ENSG00000170298 | tss_proximal | ENSG00000170298 | 106 | ENSG00000170298 | 106 | 106 | ENSG00000170298 | tss_proximal | tss_prox:b1 | tss_prox:b1 | |
17 | 21,035,856 | C | T | false | distal | 859 | rs7221483 | 0.000051 | 0.20397 | 187.83 | intron_variant | dELS_flank | ENSG00000124422 | 6,363 | ENSG00000124422 | 7,181 | 6,363 | ENSG00000124422 | dELS_flank | ENSG00000124422 | 6,416 | ENSG00000124422 | 7,518 | 6,416 | ENSG00000124422 | distal | NA | NA | |
17 | 21,057,573 | C | T | false | distal | 907 | rs80324345 | 0.000318 | 0.008192 | 15.582 | intergenic_variant | intergenic_variant | ENSG00000124422 | 13,812 | ENSG00000124422 | 13,812 | 13,812 | ENSG00000124422 | intergenic_variant | ENSG00000124422 | 13,812 | ENSG00000124422 | 13,812 | 13,812 | ENSG00000124422 | distal | NA | NA | |
17 | 21,228,297 | A | G | false | distal | 840 | rs76795284 | 0.00008 | 0.023959 | 29.614 | intron_variant | pELS | ENSG00000274180 | 10,572 | ENSG00000263815 | 1,036 | 1,036 | ENSG00000263815 | pELS | ENSG00000178307 | 14,135 | ENSG00000263815 | 1,330 | 1,330 | ENSG00000263815 | distal | NA | NA | |
17 | 21,258,771 | A | T | false | distal | 842 | rs4986000 | 0.000433 | 0.33216 | 69.091 | intergenic_variant | pELS | ENSG00000274180 | 5,360 | ENSG00000266563 | 1,196 | 1,196 | ENSG00000266563 | pELS | ENSG00000274180 | 5,360 | ENSG00000266563 | 1,729 | 1,729 | ENSG00000266563 | distal | NA | NA | |
17 | 21,258,963 | A | G | false | distal | 842 | rs7209916 | 0.000438 | 0.33218 | 69.094 | intergenic_variant | pELS | ENSG00000274180 | 5,552 | ENSG00000266563 | 1,004 | 1,004 | ENSG00000266563 | pELS | ENSG00000274180 | 5,552 | ENSG00000266563 | 1,537 | 1,537 | ENSG00000266563 | distal | NA | NA | |
17 | 21,282,319 | G | A | false | distal | 870 | rs1379595 | 0.000071 | 0.34556 | 83.284 | intergenic_variant | dELS | ENSG00000034152 | 2,390 | ENSG00000034152 | 2,352 | 2,352 | ENSG00000034152 | dELS | ENSG00000034152 | 2,390 | ENSG00000034152 | 2,352 | 2,352 | ENSG00000034152 | distal | NA | NA | |
17 | 21,313,652 | T | C | false | missense_variant | 824 | rs1657686 | 0.000155 | 0.48182 | 79.864 | missense_variant | missense_variant | ENSG00000034152 | 0 | ENSG00000034152 | 114 | 0 | ENSG00000034152 | missense_variant | ENSG00000034152 | 1,509 | ENSG00000034152 | 1,964 | 1,509 | ENSG00000034152 | missense_variant | NA | NA | |
17 | 27,294,326 | C | T | false | 5_prime_UTR_variant | 893 | rs137948039 | 0.000024 | 0.011874 | 148.31 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000109046 | 0 | ENSG00000109046 | 0 | 0 | ENSG00000109046 | 5_prime_UTR_variant | ENSG00000109046 | 19 | ENSG00000109046 | 136 | 19 | ENSG00000109046 | 5_prime_UTR_variant | NA | NA | |
17 | 27,310,161 | C | A | false | missense_variant | 821 | rs190930104 | 0.000093 | 0.000385 | 2.1418 | missense_variant | missense_variant | ENSG00000109046 | 0 | ENSG00000109046 | 0 | 0 | ENSG00000109046 | missense_variant | ENSG00000109046 | 15,814 | ENSG00000109046 | 6,840 | 6,840 | ENSG00000109046 | missense_variant | NA | NA | |
17 | 27,312,331 | C | G | false | missense_variant | 821 | rs148844476 | 0.000022 | 0.000489 | 5.0186 | missense_variant | missense_variant | ENSG00000109046 | 0 | ENSG00000109046 | 0 | 0 | ENSG00000109046 | missense_variant | ENSG00000109046 | 17,984 | ENSG00000109046 | 9,010 | 9,010 | ENSG00000109046 | missense_variant | NA | NA | |
17 | 27,460,208 | T | C | false | distal | 878 | rs9303651 | 0.000022 | 0.4376 | 165.21 | intron_variant | dELS | ENSG00000141068 | 3,333 | ENSG00000141068 | 3,333 | 3,333 | ENSG00000141068 | dELS | ENSG00000141068 | 3,759 | ENSG00000141068 | 3,477 | 3,477 | ENSG00000141068 | distal | NA | NA | |
17 | 27,460,270 | C | T | false | distal | 878 | rs10432045 | 0.000022 | 0.43728 | 165.28 | intron_variant | dELS | ENSG00000141068 | 3,395 | ENSG00000141068 | 3,395 | 3,395 | ENSG00000141068 | dELS | ENSG00000141068 | 3,821 | ENSG00000141068 | 3,539 | 3,539 | ENSG00000141068 | distal | NA | NA | |
17 | 27,537,574 | G | A | false | distal | 876 | rs62057795 | 0.000024 | 0.015369 | 28.804 | intron_variant | dELS | ENSG00000141068 | 12,993 | ENSG00000263368 | 10,350 | 10,350 | ENSG00000263368 | dELS | ENSG00000141068 | 28,815 | ENSG00000263368 | 10,350 | 10,350 | ENSG00000263368 | distal | NA | NA | |
17 | 27,630,709 | T | G | false | 5_prime_UTR_variant | 886 | rs189634134 | 0.000102 | 0.004902 | 26.065 | 5_prime_UTR_variant | 5_prime_UTR_variant | ENSG00000168961 | 0 | ENSG00000168961 | 457 | 0 | ENSG00000168961 | 5_prime_UTR_variant | ENSG00000168961 | 438 | ENSG00000168961 | 457 | 438 | ENSG00000168961 | 5_prime_UTR_variant | NA | NA | |
17 | 27,631,278 | G | A | false | missense_variant | 816 | rs3751093 | 0.000158 | 0.21365 | 195.61 | missense_variant | missense_variant | ENSG00000168961 | 0 | ENSG00000168961 | 0 | 0 | ENSG00000168961 | missense_variant | ENSG00000168961 | 82 | ENSG00000168961 | 51 | 51 | ENSG00000168961 | missense_variant | NA | NA | |
17 | 27,643,616 | A | T | false | missense_variant | 816 | rs361498 | 0.000031 | 0.20988 | 108.87 | missense_variant | missense_variant | ENSG00000168961 | 0 | ENSG00000168961 | 0 | 0 | ENSG00000168961 | missense_variant | ENSG00000168961 | 75 | ENSG00000168961 | 448 | 75 | ENSG00000168961 | missense_variant | NA | NA | |
17 | 27,798,652 | A | C | false | tss_proximal | 932 | rs3730015 | 0.000022 | 0.00186 | 20.856 | intron_variant | pELS_flank | ENSG00000007171 | 47 | ENSG00000007171 | 47 | 47 | ENSG00000007171 | tss_proximal | ENSG00000007171 | 1,876 | ENSG00000007171 | 229 | 229 | ENSG00000007171 | tss_proximal | tss_prox:b2 | tss_prox:b0 | |
17 | 28,238,934 | G | A | false | distal | 872 | rs145258866 | 0.000053 | 0.001896 | 12.296 | intergenic_variant | dELS | ENSG00000087095 | 42,552 | ENSG00000267259 | 3,652 | 3,652 | ENSG00000267259 | dELS | ENSG00000109084 | 80,265 | ENSG00000267259 | 3,652 | 3,652 | ENSG00000267259 | distal | NA | NA | |
17 | 28,359,393 | G | A | false | missense_variant | 831 | rs11538927 | 0.000081 | 0.012373 | 72.983 | missense_variant | missense_variant | ENSG00000244045 | 0 | ENSG00000244045 | 0 | 0 | ENSG00000244045 | missense_variant | ENSG00000244045 | 1,349 | ENSG00000244045 | 205 | 205 | ENSG00000244045 | missense_variant | NA | NA | |
17 | 28,364,738 | G | C | false | tss_proximal | 869 | rs2277668 | 0.000608 | 0.077444 | 154.07 | intron_variant | PLS_flank | ENSG00000273171 | 56 | ENSG00000004139 | 262 | 56 | ENSG00000273171 | tss_proximal | ENSG00000274529 | 460 | ENSG00000004139 | 381 | 381 | ENSG00000004139 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 28,367,840 | G | A | true | missense_variant | 824 | rs704 | 0.998635 | LDLC | 0.47473 | 104.3 | missense_variant | missense_variant | ENSG00000273171 | 0 | ENSG00000109072 | 27 | 0 | ENSG00000273171 | missense_variant | ENSG00000273171 | 171 | ENSG00000109072 | 1,096 | 171 | ENSG00000273171 | missense_variant | NA | NA |
17 | 28,381,727 | C | A | false | missense_variant | 838 | rs140811640 | 0.000263 | 0.010932 | 20.005 | missense_variant | missense_variant | ENSG00000004139 | 0 | ENSG00000004139 | 0 | 0 | ENSG00000004139 | missense_variant | ENSG00000004139 | 3,372 | ENSG00000004139 | 2,942 | 2,942 | ENSG00000004139 | missense_variant | NA | NA | |
17 | 28,385,370 | G | A | false | tss_proximal | 869 | rs7216657 | 0.000731 | 0.077551 | 153.74 | intron_variant | dELS_flank | ENSG00000004139 | 94 | ENSG00000004139 | 60 | 60 | ENSG00000004139 | tss_proximal | ENSG00000004139 | 269 | ENSG00000004139 | 60 | 60 | ENSG00000004139 | tss_proximal | tss_prox:b1 | tss_prox:b0 | |
17 | 28,402,410 | C | T | false | 3_prime_UTR_variant | 916 | rs4795436 | 0.005799 | 0.03623 | 84.054 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000004139 | 0 | ENSG00000076351 | 1,364 | 0 | ENSG00000004139 | 3_prime_UTR_variant | ENSG00000076351 | 2,410 | ENSG00000076351 | 1,364 | 1,364 | ENSG00000076351 | 3_prime_UTR_variant | NA | NA | |
17 | 28,405,074 | T | A | false | missense_variant | 814 | rs201837257 | 0.000127 | 0.002338 | 24.083 | missense_variant | missense_variant | ENSG00000076351 | 0 | ENSG00000076351 | 0 | 0 | ENSG00000076351 | missense_variant | ENSG00000076351 | 252 | ENSG00000265254 | 165 | 165 | ENSG00000265254 | missense_variant | NA | NA | |
17 | 28,555,117 | T | C | false | 3_prime_UTR_variant | 911 | rs138147529 | 0.000037 | 0.007544 | 21.422 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000087111 | 55 | ENSG00000087111 | 0 | 0 | ENSG00000087111 | 3_prime_UTR_variant | ENSG00000109103 | 2,485 | ENSG00000087111 | 1,711 | 1,711 | ENSG00000087111 | 3_prime_UTR_variant | NA | NA | |
17 | 28,555,976 | A | T | false | 3_prime_UTR_variant | 910 | rs633274 | 0.00291 | 0.17177 | 93.091 | 3_prime_UTR_variant | 3_prime_UTR_variant | ENSG00000087111 | 189 | ENSG00000087111 | 0 | 0 | ENSG00000087111 | 3_prime_UTR_variant | ENSG00000109103 | 3,344 | ENSG00000087111 | 852 | 852 | ENSG00000087111 | 3_prime_UTR_variant | NA | NA | |
17 | 28,578,482 | G | A | false | missense_variant | 814 | rs143024358 | 0.000048 | 0.003066 | 20.614 | missense_variant | missense_variant | ENSG00000076382 | 0 | ENSG00000076382 | 0 | 0 | ENSG00000076382 | missense_variant | ENSG00000076382 | 923 | ENSG00000076382 | 51 | 51 | ENSG00000076382 | missense_variant | NA | NA |
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