Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1056836 0.581 0.680 2 38071060 missense variant G/C snv 0.51 58
rs1057519847 0.570 0.560 7 55191821 missense variant CT/AG mnv 72
rs1057519848 0.570 0.560 7 55191822 missense variant TG/GT mnv 72
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs121434568 0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121913403 0.683 0.240 3 41224622 missense variant C/A;G;T snv 23
rs121913413 0.763 0.240 3 41224634 missense variant C/A;T snv 11
rs3020450 0.807 0.200 14 64301584 splice region variant C/A;T snv 10
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs397516436 0.641 0.440 17 7674894 stop gained G/A;C snv 34
rs4143815 0.689 0.400 9 5468257 3 prime UTR variant G/C snv 0.23 20
rs4759314 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 31
rs5275 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 55
rs876660754 0.701 0.360 17 7675095 missense variant C/A;T snv 20
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs876658657 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 25
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 71
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs752021744 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 29