Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs3740066 0.724 0.440 10 99844450 missense variant C/G;T snv 2.4E-05; 0.34 20
rs1229984 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 83
rs2233679 0.763 0.360 19 9834678 splice region variant C/T snv 0.59 11
rs2233678 0.732 0.360 19 9834503 non coding transcript exon variant G/A;C snv 14
rs1052133 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 147
rs662 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 157
rs1057035 0.763 0.440 14 95087805 3 prime UTR variant T/C snv 0.26 12
rs2274223 0.620 0.400 10 94306584 missense variant A/G snv 0.28 0.31 40
rs3765524 0.724 0.320 10 94298541 missense variant C/T snv 0.27 0.31 17
rs10272859 0.925 0.120 7 90689160 intron variant G/C snv 0.39 4
rs1805794
NBN
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 41
rs2735383 0.708 0.360 8 89935041 3 prime UTR variant C/G snv 0.31 18
rs1045642 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 214
rs7763881 0.776 0.160 6 8653014 non coding transcript exon variant A/C snv 0.44 11
rs1044250 0.807 0.240 19 8371280 missense variant C/T snv 0.30 0.29 12
rs11556218 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 27
rs4778889 0.683 0.480 15 81296654 intron variant T/C snv 0.24 24
rs4072111 0.716 0.400 15 81285798 missense variant C/T snv 0.17 0.11 16
rs1801394 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 101
rs9904341 0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06 20
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
rs28934578 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 47
rs876658468 0.689 0.440 17 7674954 missense variant G/A;C;T snv 24