Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1801272 0.807 0.240 19 40848628 missense variant A/T snv 2.0E-02 1.8E-02 6
rs36115365 0.807 0.160 5 1313127 upstream gene variant G/A;C;T snv 7
rs31490 0.776 0.280 5 1344343 splice region variant G/A;T snv 0.37; 8.0E-06 8
rs1322648460 0.776 0.320 11 35139332 frameshift variant G/- delins 9
rs1859168 0.790 0.160 7 27202740 non coding transcript exon variant A/C;G;T snv 13
rs104894360 0.724 0.560 12 25209904 missense variant T/A;C snv 14
rs2075685 0.724 0.320 5 83076846 intron variant G/A;T snv 14
rs1273593548 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 19
rs1801270 0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05 22
rs8034191 0.695 0.440 15 78513681 intron variant T/C snv 0.27 24
rs1800440 0.653 0.440 2 38070996 missense variant T/C;G snv 0.15; 4.0E-06 29
rs2308321 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 29
rs11549467 0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 30
rs4759314 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 31
rs1258159645 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 37
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs727503094 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 41
rs3212986 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 42
rs401681 0.620 0.640 5 1321972 intron variant C/T snv 0.48 42
rs1051730 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 43
rs12917 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 45
rs28934578 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 47
rs2736098 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 48
rs17879961 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53