Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1049074086 0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06 9
rs1057519695 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs1057519834 0.658 0.480 1 114713908 missense variant TG/CT mnv 31
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
rs1063192 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 21
rs11121704 1 11233902 intron variant C/A;T snv 3
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 213
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 38
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
rs121913444 0.724 0.160 7 55191831 missense variant T/A;C;G snv 17
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 55
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
rs13387042 0.732 0.280 2 217041109 intergenic variant A/G snv 0.44 15
rs1360485 0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58 15
rs1412125 0.724 0.360 13 30467458 intron variant C/G;T snv 17
rs1444669684 0.658 0.480 9 21994285 missense variant C/A;T snv 36
rs145204276 0.658 0.320 1 173868254 splice donor variant CAAGG/- delins 8.8E-02 31
rs1570360 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 38
rs16901979 0.724 0.480 8 127112671 intron variant C/A snv 0.16 16
rs1760944 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26
rs1800469 0.547 0.760 19 41354391 intron variant A/G snv 0.69 70