Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs17576 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 73
rs758272654 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 50
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs1800469 0.547 0.760 19 41354391 intron variant A/G snv 0.69 78
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs895819 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 46
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs115785973 0.925 0.080 17 78357871 3 prime UTR variant C/G;T snv 3
rs2269772 0.925 0.080 17 50072022 synonymous variant C/T snv 0.17 0.19 6
rs3809865 0.790 0.240 17 47311220 3 prime UTR variant T/A;G snv 11
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1478604 0.807 0.240 15 39581120 5 prime UTR variant T/C snv 0.40 9
rs3743073 0.807 0.120 15 78617197 intron variant G/T snv 0.61 11
rs1760944 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26
rs2494752 0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85 10
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs9589207 0.925 0.080 13 91351335 mature miRNA variant G/A;C snv 5.4E-03; 4.0E-06 4
rs11066280 0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 27
rs11614913 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs1179251 0.763 0.320 12 68251271 intron variant C/G snv 0.18 14
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
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs5443 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 106