Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs662 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs118101777 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 42
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs1805377 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 19
rs2075685 0.724 0.320 5 83076846 intron variant G/A;T snv 14
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs1800371 0.742 0.240 17 7676230 missense variant G/A;T snv 1.2E-03 15
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
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs1625895 0.752 0.200 17 7674797 non coding transcript exon variant T/A;C;G snv 9.1E-06; 0.86; 4.5E-06 13
rs78378222 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 37
rs5744533 0.807 0.120 5 75510279 intron variant C/A;T snv 6
rs4073 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 64
rs1353702185 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 79
rs1138272 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 42
rs1695 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 188
rs4246215 0.677 0.320 11 61796827 3 prime UTR variant G/C;T snv 29
rs397517132 0.623 0.280 7 55191846 missense variant A/T snv 48
rs843720 0.752 0.280 2 54283523 intron variant T/G snv 0.52 10
rs11614913 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs920778 0.633 0.480 12 53966448 intron variant G/A snv 0.57 36
rs12826786 0.683 0.480 12 53961717 upstream gene variant C/T snv 0.38 26
rs7003908 0.716 0.320 8 47858141 intron variant C/A snv 0.66 16