Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1045485 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 34
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs104886003 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 43
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
rs1130409 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 72
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 213
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 484
rs1136201 0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 33
rs121434568 0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 62
rs121913343 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 20
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 135
rs1222213359 0.574 0.720 6 43770966 missense variant G/A snv 62
rs13181 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 134
rs1458766475 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 41
rs1463038513
APC
0.658 0.440 5 112839511 frameshift variant TAAA/- delins 36
rs156697 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 25
rs16917496 0.689 0.360 12 123409283 3 prime UTR variant C/G;T snv 21
rs1760944 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26
rs1799977 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 28
rs1799983 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 246
rs1800449
LOX
0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 33