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
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
rs1057519874 0.807 0.120 7 6387261 missense variant C/A;T snv 9
rs1057519903 0.683 0.080 1 226064434 missense variant A/T snv 28
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs113488022 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 490
rs11547328 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 27
rs11549465 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 55
rs11614913 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs121434568 0.568 0.560 7 55191822 missense variant T/A;G snv 73
rs121434592 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 54
rs1217691063 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs121912651 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 53
rs121912664 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 44
rs121913254 0.658 0.440 1 114713909 stop gained G/A;C;T snv 31
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs121913377 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 480
rs121913492 0.790 0.160 9 77794572 missense variant T/A;C;G snv 11
rs121913500 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 96
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs12826786 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 26
rs1284806277
MOK
0.827 0.200 14 102251978 missense variant A/G snv 1.4E-05 13
rs1285136498 0.807 0.080 5 143400101 missense variant G/A snv 13
rs13278062 0.807 0.200 8 23225458 non coding transcript exon variant G/A;C;T snv 8