Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2275913 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 105
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs1805377 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 19
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs11614913 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs2910164 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 193
rs3746444 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs1063054 0.807 0.160 8 89934373 3 prime UTR variant T/G snv 0.32 6
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs1041983 0.732 0.240 8 18400285 synonymous variant C/T snv 0.34 0.36 15
rs1051730 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 43
rs10936599 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 32
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs709816
NBN
0.752 0.320 8 89955483 synonymous variant A/G snv 0.47 0.51 10
rs2031920 0.695 0.240 10 133526341 non coding transcript exon variant C/T snv 3.1E-02 20
rs20417 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 57
rs217727 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34
rs402710 0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 18
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs1042028 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 30
rs1042522 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 242
rs104894229 0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs104894230 0.564 0.600 11 534288 missense variant C/A;G;T snv 73
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88