Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1321845532 0.851 0.160 17 7670685 frameshift variant GG/A;G delins 4
rs1131691022 0.827 0.160 17 7670685 frameshift variant GG/A;G delins 6
rs2180314 0.776 0.200 6 52752933 missense variant C/G snv 0.60 0.52 8
rs3760396 0.732 0.280 17 34254422 upstream gene variant G/C snv 0.15 13
rs851797 0.752 0.240 1 241889740 3 prime UTR variant A/G snv 0.72 13
rs2107425 0.732 0.280 11 1999845 intron variant C/T snv 16
rs2240308 0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39 18
rs1899663 0.683 0.280 12 53967210 intron variant C/A snv 0.28 22
rs17561 0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26 23
rs3803662 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 25
rs876658657 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 25
rs1760944 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 26
rs1799977 0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23 28
rs144848 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 29
rs1800734 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 30
rs10505477 0.658 0.400 8 127395198 intron variant A/G snv 0.40 31
rs4759314 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 31
rs1800449
LOX
0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 33
rs20576 0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 34
rs752742313 0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 36
rs920778 0.633 0.480 12 53966448 intron variant G/A snv 0.57 36
rs3218536 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 37
rs2273535 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 38
rs746702110 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 38
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39