Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519729 0.827 0.080 15 66435113 missense variant A/C snv 6
rs2036534 0.827 0.080 15 78534606 3 prime UTR variant T/C snv 0.26 8
rs1225976306 0.807 0.160 7 140924673 missense variant C/T snv 9.3E-06 8
rs36115365 0.807 0.160 5 1313127 upstream gene variant G/A;C;T snv 7
rs397517132 0.623 0.280 7 55191846 missense variant A/T snv 48
rs3731249 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 23
rs762846821 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57
rs11571833 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 43
rs78378222 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 37
rs121912654 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 21
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 39
rs2242652 0.724 0.400 5 1279913 intron variant G/A snv 0.18 16
rs121913240 0.672 0.440 12 25227342 missense variant T/A;C;G snv 24
rs1444669684 0.658 0.480 9 21994285 missense variant C/A;T snv 36
rs16901979 0.724 0.480 8 127112671 intron variant C/A snv 0.16 17
rs2228001
XPC
0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 60
rs121434569 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 70
rs17577 0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 31
rs121913279 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 101
rs17655 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 52
rs2228000
XPC
0.585 0.560 3 14158387 missense variant G/A snv 0.24 0.21 53
rs2853676 0.667 0.560 5 1288432 intron variant T/A;C snv 29
rs3834129 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 38
rs1051730 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 43
rs1138272 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 42