Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4680 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 249
rs3746444 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 105
rs3918242 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 54
rs1799782 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 151
rs25487 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 205
rs25489 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 78
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
rs243865 0.600 0.640 16 55477894 intron variant C/T snv 0.19 48
rs1048943 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 88
rs861539 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 104
rs11614913 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 111
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs217727 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 34
rs2839698 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 25
rs4986791 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 182
rs2294008
PSCA ; JRK
0.672 0.320 8 142680513 5 prime UTR variant C/T snv 0.46 0.45 28
rs6983267 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 62
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs1141718 0.724 0.280 6 159688224 missense variant A/G snv 15
rs2010963 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 82
rs2275913 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 105
rs25648 0.742 0.320 6 43771240 synonymous variant C/G;T snv 8.5E-06; 0.16 11
rs699947 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67